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British HPFH

MedGen UID:
865975
•Concept ID:
C4017538
•
Finding
Synonym: BRITISH HPFH
 
OMIM®: 142200

Recent clinical studies

Etiology

Restriction endonuclease maps of the beta-like globin gene cluster in the British and Greek forms of HPFH, and for one example of G gamma beta + HPFH.
Jones RW, Old JM, Wood WG, Clegg JB, Weatherall DJ
Br J Haematol 1982 Mar;50(3):415-22. doi: 10.1111/j.1365-2141.1982.tb01936.x. PMID: 6175334

Diagnosis

Diagnosis of hemoglobinopathies: electrophoresis vs. HPLC.
Ou CN, Rognerud CL
Clin Chim Acta 2001 Nov;313(1-2):187-94. doi: 10.1016/s0009-8981(01)00672-6. PMID: 11694258

Clinical prediction guides

An A gamma globin promoter (four base-pair deletion) mutant shows linked polymorphic changes throughout the A gamma gene.
Harvey MP, Motum P, Lindeman R, Trent RJ
Exp Hematol 1992 Mar;20(3):320-3. PMID: 1373683
Identification of base substitutions in the promoter regions of the A gamma- and G gamma-globin genes in A gamma- (or G gamma-) beta+-HPFH heterozygotes using the DNA-amplification-synthetic oligonucleotide procedure.
Yang KG, Stoming TA, Fei YJ, Liang S, Wong SC, Masala B, Huang RB, Wei ZP, Huisman TH
Blood 1988 May;71(5):1414-7. PMID: 2451950

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