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Hemoglobinopathies

  • Hemoglobinopathies

    Haemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin chains of thehemoglobinmolecule. Hemoglobinopathies are inherited single-gene disorders; in most cases, they are inherited as autosomal co-dominant traits. Common hemoglobinopathies include sickle-cell disease. It is estimated that 7% of world's population (420 million) are carriers, with 60% of total and 70% pathological being in Africa.

  • Hemoglobinopathies

    Haemoglobin Functions :Transport of oxygen from the lungs to the tissues. This is due to the peculiar cooperation of the globin chains that allows the molecule to take in more oxygen where there is increased oxygen and to release oxygen in low concentration of oxygen.Transport of carbondioxide: from the tissue to the lungs.the end product of tissue metabolism is acidic which increases the hydrogen ion in solution. the hydrogen ion combines with bicarbonates to produce.

    Symptoms and signs: Blood tests (Findings).

  • Hemoglobinopathies

    Statistics: A total of 9619 infants were screened: 8142 (84.6%) had a normal phenotype, 1012 (10.5%) had sickle cell trait and 386 (4.0%) had HbC trait. Seventy-two infants were diagnosed with SCD: 37 (0.4%) were classified as HbSS or HbS-beta-thalassemia and 35 (0.4%) had HbSC disease. Of these 72 infants, 67 (93.1%) were immediately enrolled in a multidisciplinary SCD follow-up clinic.

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