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Hemoglobinopathies

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  • 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: In a recent analysis examining the frequency of Hb H genotypes in California newborns, we reported 131 Hb H and 3 Hb Bart’s hydrops fetalis cases. All of these cases were due to α thalassemia mutations commonly found in Southeast Asian and Southern Chinese populations, consistent with the ethnic distribution of these newborns. The majority of cases of Hb H disease occurred in Southeast Asian (40%) infants, followed by Chinese (15%) and Filipino (15%) infants (IJLH, accepted for publication, 2009).

 

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