Role of iron deficiency anemia in the propagation of beta thalassemia gene Usman, M., Moinuddin, M.,...
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Transcript of Role of iron deficiency anemia in the propagation of beta thalassemia gene Usman, M., Moinuddin, M.,...
![Page 1: Role of iron deficiency anemia in the propagation of beta thalassemia gene Usman, M., Moinuddin, M., Ahmed, S.A. (2011) Korean J Hematol 46: 41-44 Microcytic.](https://reader035.fdocuments.in/reader035/viewer/2022081519/56649c9e5503460f9495e762/html5/thumbnails/1.jpg)
Role of iron deficiency anemia in the propagation of beta thalassemia gene
Usman, M., Moinuddin, M., Ahmed, S.A. (2011) Korean J Hematol 46: 41-44
Microcytic hypochromic normal rbc
![Page 2: Role of iron deficiency anemia in the propagation of beta thalassemia gene Usman, M., Moinuddin, M., Ahmed, S.A. (2011) Korean J Hematol 46: 41-44 Microcytic.](https://reader035.fdocuments.in/reader035/viewer/2022081519/56649c9e5503460f9495e762/html5/thumbnails/2.jpg)
Background
• Normal hemoglobin is HbA, 22, carries oxygen– Other forms are HbA2 22 ; HbF 22 (normally gone at birth)
• -thalassemia is autosomal recessive defect in production of -chain of hemoglobin
• Thalassemia major is homozygote for mutant -chain• Thalassemia minor is heterozygote carrier (trait, BTT)
• Diagnosis shows microcytic hypochromic anemia, nucleated rbc, decreased HbA, increased HbA2 and HbF;
• Molecular diagnosis (PCR) can test for common mutations
![Page 3: Role of iron deficiency anemia in the propagation of beta thalassemia gene Usman, M., Moinuddin, M., Ahmed, S.A. (2011) Korean J Hematol 46: 41-44 Microcytic.](https://reader035.fdocuments.in/reader035/viewer/2022081519/56649c9e5503460f9495e762/html5/thumbnails/3.jpg)
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.
![Page 4: Role of iron deficiency anemia in the propagation of beta thalassemia gene Usman, M., Moinuddin, M., Ahmed, S.A. (2011) Korean J Hematol 46: 41-44 Microcytic.](https://reader035.fdocuments.in/reader035/viewer/2022081519/56649c9e5503460f9495e762/html5/thumbnails/4.jpg)
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.
![Page 5: Role of iron deficiency anemia in the propagation of beta thalassemia gene Usman, M., Moinuddin, M., Ahmed, S.A. (2011) Korean J Hematol 46: 41-44 Microcytic.](https://reader035.fdocuments.in/reader035/viewer/2022081519/56649c9e5503460f9495e762/html5/thumbnails/5.jpg)
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)
![Page 6: Role of iron deficiency anemia in the propagation of beta thalassemia gene Usman, M., Moinuddin, M., Ahmed, S.A. (2011) Korean J Hematol 46: 41-44 Microcytic.](https://reader035.fdocuments.in/reader035/viewer/2022081519/56649c9e5503460f9495e762/html5/thumbnails/6.jpg)
PCR identifies common mutations in HbB gene
![Page 7: Role of iron deficiency anemia in the propagation of beta thalassemia gene Usman, M., Moinuddin, M., Ahmed, S.A. (2011) Korean J Hematol 46: 41-44 Microcytic.](https://reader035.fdocuments.in/reader035/viewer/2022081519/56649c9e5503460f9495e762/html5/thumbnails/7.jpg)
Molecular spectrum of mutations identified
• Table 1
![Page 8: Role of iron deficiency anemia in the propagation of beta thalassemia gene Usman, M., Moinuddin, M., Ahmed, S.A. (2011) Korean J Hematol 46: 41-44 Microcytic.](https://reader035.fdocuments.in/reader035/viewer/2022081519/56649c9e5503460f9495e762/html5/thumbnails/8.jpg)
Iron treatment restores HbA2 levels in patients with IDA; also reveals BTT in the BTT-IDA patient
Table 2
![Page 9: Role of iron deficiency anemia in the propagation of beta thalassemia gene Usman, M., Moinuddin, M., Ahmed, S.A. (2011) Korean J Hematol 46: 41-44 Microcytic.](https://reader035.fdocuments.in/reader035/viewer/2022081519/56649c9e5503460f9495e762/html5/thumbnails/9.jpg)
Conclusions
• -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 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