devtrixz, Author at Genome Foundation

Importance of Complete Urine Routine Examination

Oct 11, 2023

Beta thalassemia syndromes are a group of hereditary blood disorders. They are characterized by reduced or absence of globin chain in Hb, which results in reduced Hb in RBC. Mode of inheritance is autosomal recessive. Beta-Thalassemia with associated Hb anomalies HbC/Beta Thalassemia, HbE/Beta Thalassemia, HbS/Beta Thalassemia, Hereditary persistent fetal Hb(HPFH) and beta-thalassemia. Beta thalassemia trait patients are asymptomatic and acts as carriers. They may present with mild anemia. In rare case of Beta thalassemia trait defect does not lie only in beta globin chain. When associated with other syndromes a molecular defect is identified in the gene encoding transcription factor TFIIH (Beta thalassemia trait associated with tricothiodystrophy), or X-linked factor GATA-1(Thrombocytopenia with Thalassemia). The gene for beta globin chain is located in chromosome 11 .The point mutation of the gene results in reduced amount (β+), or absence of β-chain(β0) , leads to relative excess of unbound alpha globulin chain and cause beta-Thalassemia These mutations may be homozygous or heterozygous. In both these conditions there is relative excess of α chains.. Excess chains damage the red cell precursors leading to anemia.

Author: devtrixz

Importance of Complete Urine Routine Examination

Related Posts

Complete Blood Count (CBC) Test – Normal…

Related Posts

Clinico-Hematological profile of Beta Thalassemia Trait

Related Posts