HEMOGLOBIN PLASENCIA

MedGen UID:: 855332
•Concept ID:: C3889848
•: Finding

OMIM®:

141850

Recent clinical studies

Diagnosis

Hb Plasencia [α125(H8)Leu→Arg (α2)] is a frequent cause of α+-thalassemia in the Portuguese population.

Cunha E, Bento C, Oliveira A, Relvas L, Neves J, Gameiro M, Barros C, Araújo A, Macedo A, Rocha P, Costa R, Maia T, Ribeiro ML
Hemoglobin 2013;37(2):183-7. Epub 2013 Jan 31 doi: 10.3109/03630269.2013.763822. PMID: 23368878

A dyserythropoietic anemia associated with homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), a variant with an unstable α chain.

Garçon L, Iolascon A, Pissard S, Esposito MR, Russo R, Fenneteau O, Fénéant-Thibault M, Heimpel H, Delaunay J
Hemoglobin 2010;34(6):576-81. doi: 10.3109/03630269.2010.526922. PMID: 21077766

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HEMOGLOBIN PLASENCIA

Recent clinical studies

Diagnosis

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