Sardinian HPFH

MedGen UID:: 856093
•Concept ID:: C3891817
•: Finding

Synonym:	SARDINIAN HPFH

OMIM®:	142200

Recent clinical studies

Diagnosis

Detection of the common Hb F Sardinia [A gamma (E19)Ile----Thr] variant by isoelectric focusing in normal newborns and in adults affected by elevated fetal hemoglobin syndromes.

Masala B, Manca L
Clin Chim Acta 1991 May 15;198(3):195-202. doi: 10.1016/0009-8981(91)90353-e. PMID: 1716185

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Prognosis

A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia.

Ottolenghi S, Camaschella C, Comi P, Giglioni B, Longinotti M, Oggiano L, Dore F, Sciarratta G, Ivaldi G, Saglio G
Hum Genet 1988 May;79(1):13-7. doi: 10.1007/BF00291702. PMID: 2452784

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Clinical prediction guides

Sardinian delta beta zero-thalassemia: a further example of a C to T substitution at position -196 of the A gamma globin gene promoter.

Ottolenghi S, Giglioni B, Pulazzini A, Comi P, Camaschella C, Serra A, Guerrasio A, Saglio G
Blood 1987 Apr;69(4):1058-61. PMID: 3828530

A gene controlling fetal hemoglobin expression in adults is not linked to the non-alpha globin cluster.

Gianni AM, Bregni M, Cappellini MD, Fiorelli G, Taramelli R, Giglioni B, Comi P, Ottolenghi S
EMBO J 1983;2(6):921-5. doi: 10.1002/j.1460-2075.1983.tb01522.x. PMID: 6196196 Free PMC Article

Thalassaemia types and their incidence in Sardinia.

Cao A, Galanello R, Furbetta M, Muroni PP, Garbato L, Rosatelli C, Scalas MT, Addis M, Ruggeri R, Maccioni L, Melis MA
J Med Genet 1978 Dec;15(6):443-7. doi: 10.1136/jmg.15.6.443. PMID: 745215 Free PMC Article

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Sardinian HPFH

Recent clinical studies

Diagnosis

Prognosis

Clinical prediction guides

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