Molecular basis for some disorders of haemoglobin synthesis I.
The genetic disorders of haemoglobin produce a wide range of clinical syndromes which pose a major public health problem in many parts of the world. Investigation of these conditions at the molecular level has uncovered an extraordinary diversity of mutational events which can produce human disease. These include point mutations, loss of one or more base triplets of the DNA of the haemoglobin genes, insertion of new genetic material, the production of fusion genes due to abnormal crossing over, frame shifts, chain-termination mutations, and the deletion (loss) of complete genes. It is possible in many cases to relate these molecular abnormalities to the clinical pictures which they produce.
D000743:Anemia, Hemolytic / Q000209:etiology; D000747:Anemia, Hypochromic / Q000209:etiology; D003490:Cyanosis / Q000209:etiology; D005815:Genetic Code; D006453:Hemoglobinopathies / Q000209:etiology*; D006454:Hemoglobins / Q000096:biosynthesis*; D006455:Hemoglobins, Abnormal / Q000096:biosynthesis*; D006801:Humans; D008967:Molecular Biology; D009154:Mutation; D011086:Polycythemia / Q000209:etiology; D013789:Thalassemia / Q000209:etiology
D006454:Hemoglobins; D006455:Hemoglobins, Abnormal