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Two new mutations in cis on Gγ chain of fetal hemoglobin: Hb F-Madrid [Gγ50(D1)Ser→Cys] and [Gγ75(E19)Ile→Thr]

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Abstract

We describe a new structural hemoglobin variant of Gγ with two amino acid replacements in cis found in the umbilical cord blood of a neonate in Madrid, Spain. The substitutions were identified on exon 2 of the Gγ globin gene, at codon 50 (TCT→TGT) and at codon 75 (ATA→ACA). We have named it Hb F-Madrid. The father of the propositus was the carrier of the same Gγ chain variant and, moreover, molecular study of α genes revealed the loss of an α gene (-α3.7/αα) both in the propositus and his mother.

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Fig. 1. a, b
Fig. 2a–c.

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Authors and Affiliations

  1. Servicio de Hematología y Hemoterapia, Hospital Clinico San Carlos, Facultad de Medicina, Universidad Complutense, c/o Prof. Martín Lagos s/n, 28040, Madrid, Spain

    R. Hojas, A. Villegas, P. Ropero, F. Valverde, A. Nogales, F. A. González, C. José, L. Villar & C. García

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  1. R. Hojas
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  2. A. Villegas
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  3. P. Ropero
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  4. F. Valverde
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  5. A. Nogales
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  6. F. A. González
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  7. C. José
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  8. L. Villar
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  9. C. García
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Correspondence to A. Villegas.

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Hojas, R., Villegas, A., Ropero, P. et al. Two new mutations in cis on Gγ chain of fetal hemoglobin: Hb F-Madrid [Gγ50(D1)Ser→Cys] and [Gγ75(E19)Ile→Thr]. Ann Hematol 82, 181–183 (2003). https://doi.org/10.1007/s00277-002-0598-5

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  • DOI: https://doi.org/10.1007/s00277-002-0598-5

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