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). ...

BACKGROUND Thalassemia major is one of the most common genetic disorders in Pakistan and over five thousand new patients are added in the pool annually. This familial disease has both medical and social implications, and therefore there is a need to assess the magnitude of beta-Thalassemia trait amongst family members of Thalassemia major patients. METHODS This cross-sectional descriptive stu...

Haptoglobin types were determined in 626 individuals living in the State of São Paulo (Brazil). Of these, 484 had Hb AA, 31 major beta thalassemia, 43 minor beta thalassemia, 14 Hb SS, and 54 Hb AS. Frequency distribution of the three most common types observed among patients with type beta thalassemia differed significantly from that observed in the Caucasian group with Hb AA. There was a sign...

We report a 23-year-old man and three members of his family with Hb J-Iran confirmed by electrophoresis, chain separation by high performance liquid chromatography and sequencing. Alpha thalassemia was also confirmed in two family members. The substitution at β77 led to a higher negative charge of the βJ-Iran subunit, which enhanced its electrostatic attraction for the normal positively-charged...

Hemoglobinopathies are among the most common hereditary blood diseases worldwide and are considered a public health problem in some regions. In Brazil, hemoglobin S (Hb S) has a variable frequency between different regions mainly due to the ethnic composition of local populations. Due to the multiethnic characteristics of the Brazilian people, some regions reflect scenarios that allow us to con...

Before marriage, couples are screened through a procedure known as premarital screening for differentgenetic, infectious or bloodborne diseases that can be passed from them to their offspring. The aim of ourresearch was assessment the hemoglobinopathies and undiagnosedcases with suggestive findings thalassemia its variants. evaluation hematology parameters amongcommon Hb hemoglobinopathy. This ...

Thalassemia intermedia (TI), also known as nontransfusion dependent thalassemia (NTDT), is a type of thalassemia where affected patients do not require lifelong regular transfusions for survival but may require occasional or even frequent transfusions in certain clinical settings and for defined periods of time. NTDT encompasses three distinct clinical forms: β-thalassemia intermedia (β-TI), Hb...

A number of genetically variant erythrocytes showed decreased deformability of both intact cells and membranes prepared therefrom as measured by laser diffractometry. Erythrocytes associated with minor or no clinical symptoms (eg, alpha-thalassemia traits, hemoglobin [Hb] E trait, Hb Constant Spring trait), which showed only a minimal decrease in deformability, were, in general, invaded efficie...

The presence of increased Hb Bart's (gamma 4) in cord blood is believed to be an indication of alpha-thalassemia. We have used restriction endonuclease nalyses of DNA to compare the number of alpha-genes with the percentage of Hb Bart's in 6 older children who had Hb Bart's at birth and 17 newborns. Four children with > 2% Hb Bart's had Eco R1 alpha-gene patterns and hematologic data consistent...

BACKGROUND The diagnostic criterion for beta thalassemia trait (BTT) is elevated Hb-A(2) levels. Iron deficiency anemia (IDA) reduces the synthesis of Hb-A(2), resulting in reduced Hb-A(2) levels, so patients with co-pathological conditions BTT with IDA, may have a normal level of Hb-A(2). Many socio-economic factors like unawareness, poor diagnostic facilities, and cost of molecular diagnosis ...