Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hyperimmune antisera to chromatographically purified hemoglobins F and A2 were produced in rabbits and made specific for the immunogen by adsorption with normal human hemoglobin A conjugated to cyanogen bromide-activated agarose. A radioimmunoassay was established that permitted identification and quantitation of each of these two minor hemoglobins in hemolysates containing other hemoglobin components. The quantities of hemoglobins A2 and/or F present in hemolysates of individuals with beta-thalassemia, sickle cell anemia, Hb-C disease, and other hematological disorders were determined immunochemically, and the results were commpared to values obtained by microcolumn chromatography for the measurement of Hb-A2 or with the alkali denaturation technique in quantitating Hb-F. The immunoassay procedure has a greater sensitivity than other commonly employed techniques and can detect as little as 0.05 mug of these hemoglobins.
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PMID:Specific radioimmunochemical identification and quantitation of hemoglobins A2 and F. 100 58

A family with genes for haemoglobin C (Hb C) and alpha thalassaemia was studied. The mother had Hb-C trait. The father also had Hb-C trait but in addition displayed microcytosis, elevated Hb-F levels and a concentration of Hb-C less than usual for heterozygotes. The proband was homozygous for Hb-C but had Hb-F levels far exceeding those present in Hb-C disease. Biosynthetic studies of globin synthesis in both father and daughter showed a deficit of alpha chains relative to non-alpha chains, confirming the presence of alpha thalassaemia. The coexistence of alpha thalassaemia influences the level of mutant haemoglobin in haemoglobinopathies in which Hb C is present, in a fashion similar to that observed in sickle-cell trait.
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PMID:Haemoglobin C/alpha thalassaemia: haematological and biosynthetic studies. 120 Dec 16

Between 1970-1990, the Laboratory tested 38,391 specimens for hemoglobinopathies, of which 7,935 were positive. The major abnormalities detected were beta thalassemia trait (4,688), alpha thalassemia trait (1,248) and sickle cell trait (847). Clinically significant hemoglobinopathies detected were Hemoglobin H disease (100), sickle cell disease (67) and sickle cell Hemoglobin C disease (79). Hemoglobinopathies are therefore common in the Hamilton area as a reflection of the cultural diversity of area citizens. Of the 49 patients with thalassemia without documented iron deficiency, 8 (16%) received iron therapy for a variable period of time and 3 were investigated for gastrointestinal blood loss. Hemoglobin abnormalities cause or have the potential to cause clinical disease and they can, if not detected, result in unnecessary iron therapy or gastrointestinal investigation.
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PMID:The clinical significance of hemoglobinopathies in the Hamilton region: a twenty-year review. 145 12