Laboratory diagnosis of thalassemia

Laboratory diagnosis of thalassemia Introduction. Thalassemia syndromes are a heterogeneous group of hemoglobin disorders due to a decreased or absent... Beta-thalassemia carriers. At present, there are more than 200-point mutations and deletions of different severity... HbE carrier. HbE is an. dent (NTDT) [12, 13] (Figure 1). A proper laboratory diagnosis is crucial for characterizing the different forms of thalassemia with important implications for prevention and treatment. LABORATORY DIAGNOSIS OF THALASSEMIAS: HEMATOLOGICAL TESTS Being recessive condition, recognition of carriers, is essential and possible by hematological tests. Bot Laboratory diagnosis of thalassemia requires a number of tests including red blood cell indices and Hb and DNA analyses. Thalassemic red blood cell analysis with an automated hematology analyzer is a primary screening for thalassemia since microcytosis and decreased Hb content of red blood cells are hallmarks of all thalassemic red blood cells Laboratory Diagnosis ofLaboratory Diagnosis of Thalassemia yNeed to start with patient's individual history and familyyy history. Ethnic background important. yPerform ppyhysical examination: Pallor indicating anemia. Jaundice indicating hemolysis. Splenomegaly due to pooling of abnormal cells Several laboratory tests may be used to help detect and diagnose thalassemia: Complete blood count (CBC). The CBC is an evaluation of the cells in the blood. Among other things, the CBC determines the number of red blood cells present and how much hemoglobin is in them

Laboratory diagnosis of thalassemia - Brancaleoni - 2016

Thalassemia and Hemoglobinopathies

Laboratory findings in patients with thalassemia include anemia with microcytosis, abnormal bands on hemoglobin electrophoresis, and abnormal peripheral blood smear findings. Sequencing of the globin genes will reveal mutations that lead to defective globin production 2. Screening laboratory tests for β-thalassemia and HbE carriers. Two laboratory tests are usually performed for screening of the β-thalassemia carriers: automated red cell indices (mean corpuscular volume; MCV, mean corpuscular hemoglobin; MCH, and red cell distribution width; RDW) and one-tube osmotic fragility test (OFT)

β-Thalassemia Diagnosis • HPLC: Elevated HB A2 diagnostic • Molecular analysis: Complete beta globin coding sequence, the splice sites and other intronic regions known to harbor mutations, the proximal promoter region, and the 5' and 3'UTR regions • Clinical sensitivity is up to 97% based on the ethnicit DIAGNOSIS. Prior to consideration of transfusion therapy, it is critical to confirm the patient's diagnosis. In addition to complete blood count (CBC), hemoglobin electrophoresis is the first diagnostic test. Fractions of hemoglobin A, A2, F, H, E, and other variants are measured Depending on inherited mutations, thalassemia patients exhibit distorted hemoglobin (Hb) patterns and deviated red cell indices, both of which can be used to support identification by diagnostic. Thus, α-thalassemia is often a diagnosis of exclusion, where a patient with microcytosis, normal iron studies, and normal hemoglobin electrophoresis/HPLC is presumed to have some form of α-thalassemia, although methods have been described to detect the small amounts of HbH that are present in milder forms of α-thalassemia. 3 For these. Moderate and severe thalassemias are often diagnosed in childhood because symptoms usually appear during the first 2 years of a child's life. Various blood tests are used to diagnose thalassemias: A complete blood count (CBC), which includes measures of hemoglobin and the quantity (and size) of red blood cells

T1 - Laboratory diagnosis of thalassemia. AU - Brancaleoni, V. AU - Di Pierro, E. AU - Motta, I. AU - Cappellini, M. D. PY - 2016/5/1. Y1 - 2016/5/1. N2 - The thalassemias can be defined as α- or β-thalassemias depending on the defective globin chain and on the underlying molecular defects The thalassemia major syndromes produce severe, life-threatening anemia. α-Thalassemia major usually is incompatible with extrauterine life; β-thalassemia major presents in infancy and requires life-long transfusion therapy and/or bone marrow transplantation for successful control of the disease

The thalassemias can be defined as \u3b1- or \u3b2-thalassemias depending on the defective globin chain and on the underlying molecular defects. The recognition of carriers is possible by hematological tests. Both \u3b1- and \u3b2-thalassemia carriers (heterozygotes) present with microcytic hypochromic parameters with or without mild anemia Laboratory Diagnosis: Hb Electrophoresis • 26 year old lady • Height 160 cm • Well developed 2 ndary sexual character • Occasional transfusion requirement • Hb 7. 5 gm/dl with typical PBF of thalassemia Diagnosis Thalassemia minor usually presents as a mild, asymptomatic microcytic anemia and is detected through routine blood tests in adults and in older children. These laboratory findings should be.. Most laboratories use a combination of high-performance liquid chromatography (HPLC), capillary electrophoresis, molecular analysis, and mass spectrometry to diagnose thalassemias. Definite identification of hemoglobinopathies can be achieved by a stepwise alogrithmic approach that includes a detailed clinical history, HPLC, and molecular analysis

The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are missing. Diagnosis is typically by blood tests including a complete blood count, special hemoglobin tests, and genetic tests. Diagnosis may occur before birth through prenatal testing laboratory diagnosis of hemoglobinopathies Hemoglobinopathies are a group of inherited disorders in which there is abnormal production or structure of the globin moiety of the hemoglobin molecule. Hemoglobinopathies, which include the thalassemias and structural hemoglobin (Hb) variants, are the most common group of autosomal recessively. SCBM343 CLINICAL PATHOLOGY 2(1-2-3) Laboratory for diagnosis of THALASSEMIA PORNTHIP CHAICHOMPOO pornthip.chh@mahidol.ac.t

Laboratory diagnosis of thalassemia - Wiley Online Librar

Microcytic Anemia between IDA and Thalassemia | Medical

Update in Laboratory Diagnosis of Thalassemi

LABORATORY DIAGNOSIS OF THALASSEMIA 44 42. Complete Blood Count (CBC) with red cell indices and Peripheral Blood Film (PBF) Examination and reticulocyte count. Hb low, total RBC count and Hct decreased Thalassemics have uniform microcytosis with out increase in RDW PS of Thalassemia Child Characteristic bizarre picture of red cells, which are. Approximately 5 percent of the world's population has a globin variant, but only 1.7 percent has alpha or beta thalassemia trait.2 Thalassemia affects men and women equally and occurs in. Thalassemia. Thalassemia is an inherited blood disorder characterized by low levels of hemoglobin and red blood cells. Thalassemia is caused due to defects in the genes that make hemoglobin. Hemoglobin is made up of two proteins- alpha globin and beta globin. Defects in the gene that constitute the alpha globin is referred to as alpha. Thalassemia is one of the most common single gene disorders. The geographic distribution of thalassemia and abnormal hemoglobin has been known for many years. A worldwide significant spread of these abnormal genes, especially from Southeast Asia, occurred in the last two decades. This has resulted in a dramatic increase of Hb E disorders and various Southeast Asian thalassemia genotypes, which.

The laboratory diagnosis of [3 thalassemia major and intermedia are usually straightforward. With thalassemia major the peripheral blood smears reveal severely hypochromic red cells, microcytic cells, tear drop cells and nucleated red cells. These CLINICAL BIOCHEMISTRY, VOLUME 24, AUGUST 1991 369 LUBIN, WITKOWSKA, AND KLEMAN TABLE 5. 3. Brancaleonai V, Di Pierro E, Motta I, Cappellini MD: Laboratory diagnosis of thalassemia. Int J Lab Haematol. 2016; 38(suppl 1):32-40. 4. Hartveld CI: State of the art and new developments in molecular diagnostics for hemoglobinopathies in multiethnic societies. Int J Lab Haematol. 2014; 36:1-12. 5 JL, eds. Clinical Laboratory Medicine. 2nd ed. Lippencott Williams and Wilkins; 2002: 866-892 2. Brancaleoni V, Di Pierro E, Motta I, Cappellini MD: Laboratory diagnosis of thalassemia. Int J Lab Hematol. 2016; 38 (Suppl 1):32-40 3. Hartveld C: State of the art and new developments in molecular diagnostics for hemoglobinopathies in multiethnic.

  1. Laboratory Diagnosis of Hemoglobinopathies and Thalassemia Medical Director, Hematopathology and RBC Laboratory ARUP Laboratories Assistant Professor of Pathology University of Utah Department of Pathology Archana M Agarwal, MD Learning Objectives • Understand the pathophysiology of hemoglobinopathie
  2. β thalassemia major is one of major public health problem in south China requiring lifelong blood transfusions for the children to stay alive. However, long-term transfusion increases the risk of the patients to produce the autoantibodies and alloantibodies due to repeated exposure to foreign antigens. In this study, we reported one rare case of β-thalassemia major with cold.
  3. Genetic hemoglobin disorders are caused by mutations and/or deletions in the α-globin or β-globin genes. Thalassemia is caused by quantitative defects and hemoglobinopathies by structural defect of hemoglobin. The incidence of thalassemia and hemoglobinopathy is increased in Korea with rapid influx of people from endemic areas. Thus, the awareness of the disease is needed. α-thalassemias.
  4. Thalassemia Trait. Testing for thalassemia trait involves having a single blood sample drawn. This can be done during a doctor's appointment, genetic counseling session, or sometimes through community health fairs offering this service. The following screening tests identify most types of thalassemia trait, as well as sickle cell trait, E trait.
  5. Laboratory diagnosis of a compound heterozygosity for Hb Hekinan [alpha27(B8) Glu-Asp] and a deletional alpha-thalassaemia 2 in Thailand. Chunpanich S(1), Ayukarn K, Sanchaisuriya K, Fucharoen G, Fucharoen S. Author information: (1)Department of Clinical Chemistry, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailan
  6. or and iron deficiency anemia. RBCs in thalassemia

Thalassemia Lab Tests Onlin

Laboratory diagnosis of thalassemia Request PD

  1. Reference laboratories with expertise in diagnosis of haemoglobinopathies may be needed to diagnose difficult cases in a timely manner, particularly for genetic counselling purposes. If iron status is significantly elevated as evident by a serum ferritin >1797.6 picomol/L (800 nanograms/mL), Northern California Comprehensive Thalassemia Center
  2. laboratory and diagnostic imaging services. Occasionally, medical staff that diagnostic imaging and even more so laboratory services report ults that are inappropriate or even erroneous. Consequently, the vice provided by the laboratory is wasted, placing an unacceptable den on the diagnostic services, which is of no benefit to the health vice
  3. or and no further testing need be performed
  4. To evaluate the service for prenatal diagnosis of β-thalassemia in Pakistan. Methods. All prenatal diagnoses (PNDs) for β-thalassemia since the introduction of the service in 1994 were studied. PND was done by the Amplification Refractory Mutation System (ARMS), or linkage analysis, when required
  5. Thalassemia is an inherited disorder of red blood cells. It means the children get it from their parents as the defects in the genes are present in the DNA. So because of the defect in the gene abnormal hemoglobin is produced in the body
  6. The Hemoglobin Diagnostic Reference Laboratory at Boston Medical Center provides clinical, genetic, and laboratory correlation and consultation, and is one of only three labs in the United States to conduct hemoglobin diagnostics testing. Our Laboratory is CAP and CLIA certified. We're also an integral part of The Center of Excellence in Sickle Cell Disease and are associate

Thalassemia - Diagnosis and treatment - Mayo Clini

Laboratory Diagonosis thalassemia Chiranta

  1. For the diagnosis of thalassemia, a complete blood count is first performed. Then, for confirmation of the thalassemia diagnosis, a hemoglobin and/or genetic analysis is required, and an analysis of iron status parameters is needed to confirm IDA. However, these confirmatory assays are expensive, and the process is complex
  2. Thalassemia is the most common monogenic inherited disease worldwide and it affects most countries to various extents. This review summarizes the current approaches to phenotypic and genotypic diagnosis of thalassemia in clinical practice. Prevention strategies that encompass carrier screening, genetic counseling and prenatal diagnosis are.
  3. Carrier detection is a necessity in populations in which both α- and β-thalassemia are prevalent. For laboratory diagnosis of thalassemias, molecular diagnostic algorithms should be produced by screening centers . Combining blood hematology/biochemistry and clinical parameters with laboratory analysis, discussing the clinical results with.
  4. Background . Thalassemia is one of the most common genetic hematologic disorders in the world. Despite outstanding achievements in prenatal diagnosis and a decrease in the number of patients, thalassemia is still a significant issue in most parts of the world, especially in the Mediterranean countries. Understanding the factors associated with this condition is crucial to help clinicians and.
alpha thalassemia hemoglobin - Google Search | Houses that

Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 and HBA2. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood. Normal hemoglobin consists of two alpha chains and two beta chains; in alpha-thalassemia, there is a quantitative decrease in. 1 INTRODUCTION. β-Thalassemia is one of the most common genetic disorders of blood. 1, 2 There are three subtypes of β-thalassemia, that is, β-thalassemia minor, intermedia, and major. 3 β-Thalassemia minor is caused by a deficiency in one β-globin gene, and patients usually have no symptoms or suffer from mild anemia. By contrast, β-thalassemia intermedia or β-thalassemia major is. Prenatal diagnosis of fetal hemoglobinopathy is offered when the fetus is at risk of being affected. The purpose is to allow parents to make reproductive choices based on this information and, in the case of alpha thalassemia major, to monitor the pregnancy for nonimmune hydrops fetalis and potentially intervene

PPT - Laboratory diagnosis of Anemia PowerPoint

Alpha and Beta Thalassemia and Laboratory Tests - Ulta Lab

Laboratory Diagnosis of Iron-deficiency Anemia: An Overview GORDON H. GUYATT, MD, ANDREW D. OXMAN, MD, MAHMOUD ALL MD, ANDREW WILLAN, PhD, WILLIAM MclLROY, PhD, CHRISTOPHER PATTERSON, MD B a c k g r o u n d a n d m e t h o d s : To d e t e r m i n e the diagnostic Optimal use of a diagnostic test in clinical practice values o f l a b o r a t o r y tests used in the d i a g n o s i s o f iron. Laboratory Diagnosis. The diagnosis of beta thalassemia is generally made using High Performance Liquid Chromatography (HPLC) or Capillary Zone Electrophoresis (CZE), while alpha thalassemia can be diagnosed using a phenotypic method (a special stain of the peripheral blood smear) or a genotypic method which identifies the common mutations [39,40]

Frontiers Update in Laboratory Diagnosis of Thalassemia

  1. Laboratory testing for unstable hemoglobinopathies consists of an initial evaluation, specialized testing, and genetic testing. Use to confirm carrier status or diagnosis of β thalassemia or β-globinopathy in individual with clinical findings or family history of β thalassemia or hemoglobinopathy
  2. Thalassemia and thalassemic hemoglobinopathies pose serious health problem leading to severe morbidity and mortality in Indian population. Plethora of hemoglobin variants is prevalent in multiethnic Indian population. The aim of the present study was to analyze laboratory aspects, namely, hematological profile and HPLC findings of the hemoglobin variants detected, and to discuss problems that.
  3. Webinar Update on Thalassaemia / Haemoglobinopathy Diagnosis and Research 2021 29-30 August 2021, 23-24 August 2021.. Organized by: Haematology Department, School of Medical Sciences, Health Campus, Universiti Sains Malaysia and collaboration with Utas Maju Sdn. Bhd. the principle provider of Sebia, Capillary Electrophoresis

Thalassemia laboratory findings - wikido

Beta-thalassemia major typically shows markedly elevated HbF (30-to-greater than 95%) with normal to mildly elevated HbA2. The distinction between beta-thalassemia major and intermedia is a clinical one and does not have diagnostic laboratory findings Alpha thalassemia Laboratory diagnosis [edit] Initial laboratory diagnosis should include a complete blood count and red blood cell indices. [8] As well, a peripheral blood smear should be carefully reviewed. [8] Hemoglobin analysis is important for the diagnosis of alpha-thalassemia as it determines the types and percentages of types of hemoglobin present. [16 Thalassemia Tests & Diagnosis. Laboratory Tests. Complete blood count (CBC). The CBC is a snapshot of the cells and fluid in your bloodstream. Among other things, the CBC will tell the doctor how many red blood cells are present and how much hemoglobin is in them. It will give the doctor an evaluation of the size and shape of the red blood. Children with beta thalassemia major are usually diagnosed during the first year of age. Pallor,growth retardation,abdominal swelling,irritability and jaundice appear during the infancy. Doctors can diagnose thalassemia with blood tests,using a blood sample of the child sent to a laboratory for further analysis for a complete blood count. The diagnosis of thalassemia may need to be considered in a patient with erythrocytic microcytosis, in unexplained hydrops fetalis, or for genetic counseling of patients at risk for thalassemia major. A panel of screening tests can help direct subsequent specialized testing

Laboratory diagnosis of anemiaThalassemias - Diagnosis and ManagementHemoglobin C Diease and Trait laboratory diagnosis

Laboratory Diagnosis of β-Thalassemia and HbE IntechOpe

Consequently, free α-globin accumulates, which is toxic to red blood cells and their precursors. Normally, there are 2 β-globin genes. Loss of 1 β-globin gene usually causes β -thalassemia trait, which is asymptomatic, although red blood cells are small. Usually, both β-globin genes must be mutated to cause symptomatic β-thalassemia Thalassemia syndromes are the most common inherited monogenic diseases that kill and affect millions of people worldwide. As Thalassemic diseases became a healthcare system burden for many countries around the world Thalassemia management emerges as a lifetime treatment program that should regularly be monitored with preferable choice for management Diagnosing thalassemia traits and diseases. Thalassemia may be suspected if an individual shows signs that are suggestive of the disease. However, in all cases, laboratory diagnosis is essential to confirm the exact diagnosis and to allow for the provision of exact genetic counselling about recurrence risks and testing options for parents and affected individuals Mild thalassemia: People with thalassemia traits do not require medical or follow-up care after the initial diagnosis is made. People with β-thalassemia trait should be warned that their condition can be misdiagnosed as the more common iron deficiency anemia.They should avoid routine use of iron supplements; yet iron deficiency can develop during pregnancy or from chronic bleeding for diagnosing diabetes. The recent availability of rapid, reliable, and easy-to-perform tests for detecting HbA1c has introduced rapid Diabetes diagnosis. This review thus summarizes the current information on the present and future aspects of diagnostic methods for HbA1c. Keywords: Glycated hemoglobin (HbA1c); Enzymatic methods; Diabetes mellitu

Laboratory diagnosis of thalassemia

to investigating the molecular and serologic characteristics of β-thalassemia patients in Iraq. Peripheral blood samples were collected from 97 β-thalassemia patients and 32 healthy control subjects. Quantitative sandwich enzyme-linked immunosorbent assay was performed to measure serum ferritin, 25-hydroxy vitamin D, and 8-hydroxydeoxyguanosine (8-OHdG) levels. Further, the β-globin. The diagnosis of alpha thalassaemia trait is usually suspected when there is microcytosis not explained by beta- or other thalassemia (based on Hb electrophoresis and HPLC) or iron deficiency. Occasionally HbH inclusions may be detected, however this is not a reliable diagnostic test Background . The two most frequent types of microcytic anemia are beta thalassemia trait ( β -TT) and iron deficiency anemia (IDA). We retrospectively evaluated the reliability of various indices for differential diagnosis of microcytosis and β -TT in the same patient groups. Methods . A total of 290 carefully selected children aged 1.1-16 years were evaluated Thalassemia major is a severe anemia that presents during the first few months after birth, when the patient's level of fetal hemoglobin decreases. The diagnosis is usually obvious in the clinic. This cell volume, reported in femtoliters, in most adult populations ranges from ~80 to 100 fL. Thalassemic individuals have a reduced MCV, and one study has suggested that an MCV of 72 fL is maximally sensitive and specific for presumptive diagnosis of thalassemia syndromes (13). The RDW is a measure of the degree of variation in red cell size

Thalassemia: Symptoms and Diagnosis - Thalassemia

diagnosis. 2. What is beta-thalassemia, its incidence, and etiology? 3. Discuss the clinical manifestations of beta-thalassemia. 4. Discuss the significance of Adriana's laboratory values. 5. Discuss the complications associated with the chronic blood transfusions associ-ated with Adriana's condition. 6. Discuss the standards of car Provisional diagnosis of α(+)-thalassemia is generally accepted in certain ethnic groups, including Iraqi/Arab, if the clinical presentation and laboratory findings are consistent with the presence of thalassemia, and exclusion of possibility of β-thalassemia and iron-deficiency anemia using Hb HPLC and serum ferritin and/or serum iron and.

Codocytes known as Target Cells | Medical Laboratories

Clinical Laboratory Manifestation and Molecular Diagnosis of β-Thalassemia Patients in Iraq Buy Article: $52.00 + tax Further, the β-globin mutation detection assay involving an extensive screening of β-globin mutations by direct Sanger DNA sequencing and gap-PCR was performed to detect the Δ619 deletion mutation In summary, the laboratory screening for anaemia has been improved by using the new haemocytometric parameters and by the development of new discriminating algorithms for the diagnosis of iron-deficient erythropoiesis and thalassemia. Pregnancy. In pregnant women, the prevalence of iron-deficiency anaemia ranges from 6 to 30% in developed. Hemolytic anemias are a group of disorders with varied clinical and molecular heterogeneity. They are characterized by decreased levels of circulating erythrocytes in blood. The pathognomic finding is a reduced red cell life span with severe anemia or, compensated hemolysis accompanied by reticulocytosis. The diagnostic workup or laboratory approach for hemolytic anemias is based on methodical. Additional Information. α-Thalassemia (OMIM 141800) is the most common inherited disorder of hemoglobin (Hb) synthesis in the world, with gene frequencies varying between 1% and 98% throughout the tropics and subtropics. α-Thalassemia can occur in all ethnic groups but is more common in those of Southeast Asian descent Apart from the basic complete blood count, laboratory tests like ferritin, hemoglobin analysis (HbA 2 and abnormal Hb) and DNA analysis are the key diagnostic parameters for IDA, β- and α-thalassemia, respectively. However, areas where thalassemia is endemic often have low health care resources and these assays may not be generally available

(PDF) Thalassemia in the laboratory: Pearls, pitfalls, and

What is beta thalassemia? Beta thalassemia is a genetic disorder where there's a deficiency in production of the β-globin chains of hemoglobin, which is the. β thalassemia occurs when there is a quantitative reduction of β globin chains that are usually structurally normal. 2 They are caused by mutations that nearly all affect the β globin locus and are extremely heterogeneous. Almost every possible defect affecting gene expression at transcription or post-transcriptional level, including translation, have been identified in β thalassemia. 3. Reliability of Red Cell Indices for Differential Diagnosis of Beta Thalassemia Trait and Iron Deficiency Anemia, Background: Iron Deficiency Anemia (IDA) and beta-thalassemia trait (β-TT) are the two most prevalent causes of microcytic hypochromic anemia. The current study aimed to assess the accuracy of the various indices to distinguish these two conditions Routine laboratory investigations show a microcytic anemia, but to confirm the diagnosis further laboratory investigations are needed. Aims To investigate the frequency of the different beta thalassemia mutations in Hungary and to present an algorithm for the investigation of microcytic anemias

Molecular Diagnosis of Thalassemias and Hemoglobinopathies

Laboratory Diagnosis of Iron Deficiency Anemia (IDA) Anemia is the condition of decrease in number of circulating red blood cells (and hence hemoglobin) below a normal range for age and sex of the individual, resulting in decreased oxygen supply to tissues. Iron deficiency anemia is a type of microcytic hypochromic anemia, which is the most. The diagnosis of beta thalassemia minor usually is suggested by the presence of the following: Mild, isolated microcytic anemia Target cells on the peripheral blood smear (see the images below) A. Prenatal Diagnosis of Sickle Cell Disease. Despite recent advances in the management of sickle cell disease (SCD) through improved care, 1,2 re-induction of fetal hemoglobin synthesis, 3,4 and bone marrow transplantation, 5 the condition nonetheless frequently causes major morbidity and early death. 6,7 In addition, SCD has an enormous impact on the public health systems in the countries where. Prenatal diagnosis of nondeletional alpha-thalassemia in pregnancies at risk for Hb H hydrops fetalis syndrome NOTE: For outside patients please provide additional clinical and family history. Please include the following available laboratory data: CBC, Hb electrophoresis, and iron studies

Thalassemia Blood Disorder: Symptoms, Treatments, Tests

The globin tetramer is hydrophilic on its surface, making the molecule water soluble. The center is hydrophobic, stabilizing the heme ring and the iron molecule in the ferrous state (Fe 2+). Located in the interior of each globin chain is a heme ring with an iron molecule in the center. It is in the heme ring that oxygen binding and release. This is a retrospective study which carried out at Hematology Department, Central Public Health Laboratory. From referral cases to Hematology Laboratory for evaluation of anemia and for checkup, fifty subjects who diagnosed as IDA (12 males and 38 females with age range: 18-65 years) and fifty subjects (twenty male and thirty females with age range: 17-66 years) who diagnosed as β-TT were. Test. Hb will be normal in alpha-thalassemia silent carrier and may be slightly low in alpha-thalassemia trait. The Hb is variable in Hb H disease: approximately 8 to 12 g/dL in deletional disease and 6 to 11 g/dL in nondeletional disease. Chui DH, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder

Laboratory diagnosis of thalassemia — Italian Ministry of

The standard strategy of laboratory diagnosis used for moderate-to-severe fetal thalassemia was combined by phenotypic screening and genotyping. The screening for α- and β- thalassemia was carried out when the mean corpuscular volume (MCV) was <82fL and/or mean corpuscular Hb (MCH) was <27pg which indicate hypochromic microcytic anemia. Beta-thalassemia is due to decreased beta-globin chain synthesis of which, caused by a mutation in the HBB gene. The HBB gene mapped on chromosome 11p15.4 with a region spanning from 5,225,464 to. Molecular characteristics of α+-thalassemia (3.7 kb deletion) in Southeast Asia: Molecular subtypes, haplotypic heterogeneity, multiple founder effects and laboratory diagnostics. by Thanyaornwanya Charoenwijitkul, Kritsada Singha, Goonnapa Fucharoen, Kanokwan Sanchaisuriya, Phuthita Thepphitak, Preawwalee Wintachai, Rossarin Karnpean, Supan Fucharoen