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Thalassemia Trait (thalassemia + trait)

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Medical Sciences100%

Selected Abstracts

An improved method for detecting red cells with hemoglobin H inclusions that does not require glass capillary tubes

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 2 2003
D.E. Sabath
Summary, -Thalassemia trait is the most common inherited abnormality worldwide. Diagnosis of , -thalassemia trait can be difficult as there are no abnormalities detectable by hemoglobin electrophoresis or high-performance liquid chromatography. Detection of individuals with , -thalassemia trait, particularly the type present in many Asian populations, is important for genetic counseling purposes, because these individuals are at risk for having offspring with hemoglobin Bart's hydrops fetalis, a fatal condition. The best routine diagnostic method to detect individuals with , -thalassemia trait is staining reticulocyte-enriched red cell preparations with brilliant cresyl blue to detect hemoglobin H inclusions. Current methods use centrifugation of microhematocrit tubes to enrich for reticulocytes, which presents a laboratory safety hazard. In this report, we describe an alternative technique to enrich for reticulocytes that does not require glass capillary tubes, but is as effective as the capillary tube method for reticulocyte enrichment and detection of cells containing hemoglobin H inclusions. [source]

Type 3 hemochromatosis and , -thalassemia trait

EUROPEAN JOURNAL OF HAEMATOLOGY, Issue 5 2004
Alessia Riva
Abstract: Type 3 hemochromatosis is a rare autosomal recessive disorder due to mutations of the TFR2 gene. We describe clinical, biochemical and histopathologic findings of a patient with type 3 hemochromatosis at presentation and during a follow-up of more than 20 yr and we evaluate the effect of an associated , -thalassemia trait on phenotypic expression. At the age of 33 yr the patient showed a marked iron overload and severe iron-related complications. After removal of 26 g of iron by subcutaneous deferoxamine infusion a marked clinical improvement was observed. Liver biopsies, performed at the age of 34 and 49 yr, indicate that in type 3 hemochromatosis there is a progressive hepatocellular iron accumulation from Rappaport's zone 1,3 and that iron loading in sinusoidal and portal macrophages occurs only in the more advanced stage. As observed in HFE hemochromatosis, the , -thalassemia trait seems to aggravate the clinical picture of patients lacking TFR2, favoring higher rates of iron accumulation probably by activation of the erythroid iron regulator. [source]

Case report of HbC/,0 -thalassemia from India

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 5 2007
S. KUMAR
Summary This 22-year-old women presented to the ante-natal clinic of this hospital for prenatal screening for , -thalassemia. Cation exchange high performance liquid chromatography (HPLC) using ,Beta Thalassemia Short Program' on Bio-Rad ,Variant' system revealed HbC value of 81.6%. The CBC showed microcytic hypochromic anemia. The HPLC and CBC suggested the possibility of compound heterozygote state for HbC/, -thalassemia. The alkali and acid electrophoresis findings were consistent with the above diagnosis. The DNA analysis confirmed compound heterozygote state for HbC/,0 -thalassemia (Fr 8/9 mutation). The studies on the parents showed that mother was a compound heterozygote for HbDPunjab and HbC while father had , -thalassemia trait. To the best of our knowledge, this is the first confirmed report of HbC from India. The paper discusses the hematological findings in this subject and her mother (a compound heterozygote for HbDPunjab and HbC). [source]

An improved method for detecting red cells with hemoglobin H inclusions that does not require glass capillary tubes

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 2 2003
D.E. Sabath
Summary, -Thalassemia trait is the most common inherited abnormality worldwide. Diagnosis of , -thalassemia trait can be difficult as there are no abnormalities detectable by hemoglobin electrophoresis or high-performance liquid chromatography. Detection of individuals with , -thalassemia trait, particularly the type present in many Asian populations, is important for genetic counseling purposes, because these individuals are at risk for having offspring with hemoglobin Bart's hydrops fetalis, a fatal condition. The best routine diagnostic method to detect individuals with , -thalassemia trait is staining reticulocyte-enriched red cell preparations with brilliant cresyl blue to detect hemoglobin H inclusions. Current methods use centrifugation of microhematocrit tubes to enrich for reticulocytes, which presents a laboratory safety hazard. In this report, we describe an alternative technique to enrich for reticulocytes that does not require glass capillary tubes, but is as effective as the capillary tube method for reticulocyte enrichment and detection of cells containing hemoglobin H inclusions. [source]