The compound state: Hb S/beta-thalassemia

The compound state: Hb S/beta-thalassemia☆

Sickle cell disease (SCD) results from a single amino acid substitution in the gene encoding the -globin subunit ( 6Glu > Val) that produces the abnormal hemoglobin (Hb) named Hb S. SCD has different genotypes with substantial variations in presentation and clinical course (Table 1).1,2 The combination of the sickle cell mutation and beta-thalassemia ( -Thal) mutation gives rise to a compound h...

Hematological and molecular characterization of beta-thalassemia/Hb Tak compound heterozygote.

We report a case of beta-thalassemia/Hb Tak compound heterozygote. The 7 year-old Thai boy presented with plethora since birth. Hemoglobin electrophoresis showed a major band between Hb A2 and Hb F and absent Hb A. DNA sequencing study demonstrated an AC insertion at the terminal codon of the beta-globin gene. The clinical feature of polycythemia reflected a high oxygen affinity of Hb Tak.

Compound heterozygosity for Hb D-Punjab / β-thalassemia and blood donation: case report.

Molecular and haematological characterization of compound Hb E/Hb Pyrgos and Hb E/Hb J-Bangkok in Thai patients.

We describe haematological and DNA characterization of haemoglobinopathies in Thai adolescents caused by compound heterozygosities for Hb E [beta26(B8) Glu-Lys] and two other beta-globin chain variants, Hb Pyrgos [beta83(EF7) Gly-Asp] and Hb J Bangkok [beta56(D7) Gly-Asp]. Hb analysis demonstrated that although these two beta-chain variants have separated elution profiles on liquid chromatograp...

Molecular characterization of thalassemia intermedia with homozygous Hb Malay and Hb Malay/HbE in Thai patients.

Patients with thalassemia intermedia have a mild anemia and survive without needing regular blood transfusions.1 Here we report two cases of Thai patients with β-thalassemia intermedia caused by homozygosity of hemoglobin Malay (Hb Malay; α2β219Asn-Ser)2 and compound heterozygosity of Hb Malay and hemoglobin E (Hb E; α2β226Glu-Lys). Both patients presented with a history of anemia with marked m...