Article
Two new alpha chain variants: Hb Boghé [alpha58(E7)His-->Gln, alpha2], a variant on the distal histidine, and Hb CHarolles [alpha103(G10)His-Tyr, alpha1].
Hemoglobin - 1 Nov 1999
Lacan P, Francina A, Souillet G, Aubry M, Couprie N, Dementhon L, Becchi M
Abstract excerpt
The present paper reports two new alpha-globin chain variants: Hb Boghé [alpha58(E7)His-->Gln, alpha2] and Hb Charolles [alpha103(G10)His-->Tyr, alpha1]. Hb Boghé was found in a 12-month-old girl who was treated for malignant histiocytosis at 9 months of age and received a bone marrow transplant from her sister. Hb Boghé was undetectable by isoelectrofocusing and high performance liquid chromatography of...
Topics
- Amino Acid Substitution
- Chromatography, High Pressure Liquid
- Female
- Genetic Variation
- Globins
- Glutamine
- Hemoglobins, Abnormal
- Histidine
- Humans
- Infant
- Isoelectric Focusing
- Tyrosine
