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Role of iron deficiency anemia in the propagation of beta thalassemia gene. Microcytic hypochromic. normal rbc. Usman, M., Moinuddin, M., Ahmed, S.A. (2011) Korean J Hematol 46: 41-44 . Background. Normal hemoglobin is HbA , a 2 b 2 , carries oxygen
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Role of iron deficiency anemia in the propagation of beta thalassemia gene Microcytic hypochromic normal rbc Usman, M., Moinuddin, M., Ahmed, S.A. (2011) Korean J Hematol 46: 41-44
Background • Normal hemoglobin is HbA, a2b2, carries oxygen • Other forms are HbA2a2d2 ; HbFa2g2 (normally gone at birth) • b-thalassemia is autosomal recessive defect in production of b-chain of hemoglobin • Thalassemia major is homozygote for mutant b-chain • Thalassemia minor is heterozygote carrier (trait, BTT) • Diagnosis shows microcytichypochromic anemia, nucleated rbc, decreased HbA, increased HbA2 and HbF; • Molecular diagnosis (PCR) can test for common mutations
Background • Severe disease, shortened life expectancy • One of most common genetic disorders in Pakistan • Treatment of thalassemia requires many transfusions • Complications from iron overload, chelation therapy • Preventive program is based on identification of carriers: elevation of HbA2 >3.5% • However, iron deficiency anemia (IDA) decreases amount of hemoglobin -> HbA2 seems normal in person with BTT and IDA.
Experimental plan • Test large number of women for BTT and IDA • Blood tests, hemoglobin electrophoresis, • Molecular diagnosis for common mutations (PCR) • Determine whether any BTT and IDA patients • Treat the IDA patients with oral iron, and see if HbA2 levels change.
Results • 34 of 200 women were anemic • Hb electrophoresis showed 16 BTT (inc HbA2) • Molecular diagnosis confirmed these 16 also 8 more - those 8 had BTT and IDA • 10 just had IDA (serum ferritin levels)
Iron treatment restores HbA2 levels in patients with IDA; also reveals BTT in the BTT-IDA patient Table 2
Conclusions • b-thalassemia is a serious disease, autosomal recessive, most common genetic disorder in Pakistan • Preventive efforts require identification of carriers (BTT) • As increased level of HbA2 because less b chain • Iron deficiency anemia (IDA) results in lower Hb overall, and also HbA2 • IDA in patient with BTT can mask the carrier state. • Any patient suspected of BTT should be tested for iron deficiency, which is corrected by iron treatment