Article
A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an alpha2 globin gene variant (Hb Conakry).
British journal of haematology - 1 Dec 1998
Cohen-Solal M, Préhu C, Wajcman H, Poyart C, Bardakdjian-Michau J, Kister J, Promé D, Valentin C, Bachir D, Galactéros F
Abstract excerpt
A Guinean woman, heterozygous for haemoglobin (Hb) S, was studied because of episodes of marked anaemia, repeated typical metaphyseal painful crises and haemosiderosis. Her sickling syndrome resulted from the association of Hb S trait with a severe pyruvate kinase deficiency leading to a 2,3-DPG...
Topics
- Adult
- Anemia, Sickle Cell
- Female
- Globins
- Hemoglobin, Sickle
- Heterozygote
- Humans
- Oxygen
- Phenotype
- Pyruvate Kinase