Hemoglobinopathies

Hemoglobinopathies are genetic alterations in the hemoglobin molecule. The most common form of hemoglobinopathy in the Mediterranean area is thalassemia or Mediterranean anaemia. It is a microcytic, hemolytic anaemia (small red blood cells) characterized by an altered hemoglobin  synthesis and by the production of ineffective red blood cells (erythropoesis). There are two common forms: the minor heterozygote usually symptomless and the more serious homozygote (Cooley’s disease). The latter, besides causing serious anaemia, is characterized by splenomegaly, and hyper-activity of the bone marrow that causes the thickening of the skull bones and the cheekbones (facies thalassemica). The involvement of the long bones frequently determines pathological fractures. The cortex of the skull and of the long bones is thinned. The latter may have areas of osteoporosis, the vertebrae and the skull may have a granular look or be like frosted glass and the phalanxes may seem rectangular or biconvex. Eugenic treatment may be useful to avoid the more serious form. Treatment can include splenectomy, blood transfusions, chelating treatment, bone-marrow transplant. To avoid fractures orthopaedic aids are useful. Another very rare disease is falciform anaemia that strikes almost exclusively the negro population.             

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