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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: We found that 59% of women who delivered at the University Hospital of Ferrara, from 2007 to 2009, had undergone high performance liquid chromatography. Of the 41% who were not tested, many were from areas in which sickle cell disease is common. Between September 26th 2010 and January 31st 2012, 1992 neonatal tests were performed and 24 carriers of haemoglobinopathies were identified (16 with HbS, 4 with HbC, 2 with HbE, 1 with HbD Punjab and 1 with HbD-Ouled Rabah).

 

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