alpha thalassemia (α-thal) is relatively common worldwide. most carriers are defective in either one or two alpha globin genes out of four functional ones, with deletions being more common than point mutations. the hematologic features are very important for the selection of the appropriate molecular tests while determining the genotype. the aim of this study was to compare hematologic features...

The variety of patients with thalassemia in Thailand offers an opportunity to fully characterize the kinetic causes of the anemia and to study apoptosis of marrow erythroid precursors as a possible factor contributing to its severity. Kinetic studies showed that in hemoglobin H (HbH) disease, the extent of hemolysis, as well as the minimally ineffective erythropoiesis, usually falls within the ...

Human hemoglobin messenger RNA was isolated by sucrose gradient centrifugation from reticulocytes of patients having various hemolytic anemias. Using a messenger RNA-dependent cell-free system derived entirely from rabbit reticulocytes, the human hemoglobin messenger RNA has been translated and the products analyzed by carboxymethylcellulose column chromatography. Normal messenger RNA directs s...

The alpha 2-globin gene of an individual with alpha-thalassemia associated with the absence of alpha 2 mRNA was cloned in bacteriophage. This mutant globin gene was normally active in transcription in vitro. The DNA sequence of the gene, however, revealed a pentanucleotide deletion within the 5' splice junction of the first intervening sequence. Following the G of the invariant G-T dinucleotide...

A 19-year old Thai male presented to the hospital with fever, acute hemolysis, pallor and jaundice without hepatosplenomegaly. On admission his hematocrit was 17.4% and a blood smear showed moderate hypochromia with mild anisopoikilocytosis. Hemoglobin (Hb) electrophoresis revealed Hb A2ABart's Hb H with an abnormal band, which on PCR proved to be Hb Pyrgos (beta83, glycine --> aspartic acid). ...