Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hb Southampton (also known as Hb Casper) is characterized by the substitution of a leucine residue for a proline at codon beta106 (CTG-->CCG). This mutation breaks the G helix and severely distorts the tertiary structure of the molecule, producing an unstable hemoglobin (Hb) and severe hemolysis. We identified this hemoglobinopathy in a young patient with severe hemolytic anemia and hepatosplenomegaly.
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PMID:Hb Southampton [beta106(G8)Leu-->Pro, CTG-->CCG] in an Argentinean boy. 1684 Feb 33

When moyamoya vasculopathy results from an associated disease, this vasculopathy is then referred to as moyamoya syndrome. Moyamoya syndrome has been reported in association with sickle cell disease, neurofibromatosis type 1, Down syndrome, radiation exposure, and other predisposing factors. Other than sickle cell disease, rare hemoglobinopathies, such as hemoglobin Fairfax and hemoglobin Alesha, have been reported to occur with moyamoya. We present a case of moyamoya syndrome associated with an unstable hemoglobinopathy, hemoglobin Southampton (Casper). This is the first reported case of moyamoya associated with this hemoglobinopathy.
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PMID:Moyamoya syndrome associated with hemoglobin Southampton (Casper). 2534 87