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Haemoglobin abnormalities

Fall into 2 major groups: structural abnormalities of Hb due to alterations in DNA coding for the globin protein leading to an abnormal amino acid in the globin molecule, e.g. sickle haemoglobin (ßS). Second group of Hb disorders results from imbalanced globin chain production—globins pro duced are structurally normal but their relative amounts are incorrect and lead to the thalassaemias.

Haemoglobinopathies result in significant morbidity and mortality on a world-wide scale. Patients with these disorders are also seen in Northern Europe and the UK, especially in areas with significant Greek, Italian, Afro-Caribbean and Asian populations.

a-like genes on chromosome 16

a2 al

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