Comprehensive biochemical and molecular analysis of patients suspected with inherited hemolytic anemia in Sri Lanka and assessment of its contribution to anemia burden in the community
Summary
Intrinsic hemolytic anemia are most often inherited and are mainly due to abnormalities in the red cell membrane, defects in erythrocyte metabolism, production of abnormal hemoglobin (Hb), or impaired synthesis of the globin chains of Hb. The essential features of hemolytic anemia is a reduction of the life span of the patient’s erythrocytes by destruction which causes clinically significant dysfunction of the erythrocyte. The current knowledge reading prevalence, genetic basis and the etiology of inherited hemolytic anemia in Sri Lanka is extremely spares. Also there is no established laboratory and a systematic investigation to diagnose the red cell membrane and enzyme disorders in Sri Lanka. Hence they often remains undiagnosed and these cases are often only treated symptomatically. Also no systematic study has so far been undertaken in these cases of hemolytic anemia and methemoglobinemia to look for RBC membranopathies red cell enzyme deficiency and unstable hemoglobin variants in Sri Lanka. Finding of this studies will help to develop simple screening method and to establish a specific laboratory for diagnosis of hemolytic anemia patients attending to hematology and hemoglobinopathy clinics in Sri Lanka. Important stakeholders of the findings of this study include Health ministry of Sri Lanka, Physicians and hematologist and the hemolytic anemia patients in Sri Lanka.
Objectives
General objective
To investigate the contribution of red cell membranopathies, enzymopathies and unstable Hb variants to uncharacterized anemia in the community and to undiagnosed hemolytic anemia and methemoglobinemia
Specific objectives
1. To establish simple methods for screening of red cell membrane and enzyme disorders.
2. To determine the contribution of red cell membranopathies and enzymopathies to uncharacterized anemia in the community
3. To determine the contribution of red cell membranopathies to undiagnosed hemolytic anemia and to identify the protein abnormality.
4. To determine the contribution of red cell enzyme deficiencies to undiagnosed hemolytic anemia
5. To determine the causes of methemoglobinemia and understand the molecular mechanism in these group of disorders
6. To determine the contribution of unstable hemoglobin variants to undiagnosed hemolytic anemia