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Hb Iberia [α104(G11)Cys → Arg,TGC>CGC (α2) (HBA2:c.313T>C)], a new α-thalassemic hemoglobin variant found in the Iberian Peninsula: report of six cases.

Hemoglobin - 1 Jan 2012

Bento Celeste, Oliveira Ana Catarina, Neves Joana, Gameiro Mariline, Cunha Elizabete, Coucelo Margarida, Costa Ricardo Marques, Barbot José, Costa Emilia, Fernández-Lago Carlos, Ribeiro M Leticia

Abstract excerpt

We report a new structural defect of the α2-globin chain presenting with moderate microcytic hypochromic anemia, in six individuals from three unrelated families, living in Portugal and Spain. α-Globin gene deletions were ruled out by gap-polymerase chain reaction (gap-PCR) and multiplex ligation-dependent probe amplification (MLPA). Direct sequencing of the α2-globin gene revealed a substitution of codon 104...

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alpha-Globins
alpha-Thalassemia
Amino Acid Substitution
Codon
Hemoglobins, Abnormal

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PMID: 23181747
DOI: 10.3109/03630269.2012.742911

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HBA2

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Hb Iberia [α104(G11)Cys → Arg,TGC>CGC (α2) (HBA2:c.313T>C)], a new α-thalassemic hemoglobin variant found in the Iberian Peninsula: report of six cases.PMID 23181747Read ↗

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