Affiliation:
1. Medical Laboratory Centre médical du Puits de Jacob Sokode Togo
2. Molecular biology/haemoglobin Laboratory Cliniques universitaires Saint‐Luc, Université catholique de Louvain Brussels Belgium
3. Clinical medicine Centre médical du Puits de Jacob Sokode Togo
4. Université catholique de Louvain Brussels Belgium
Abstract
AbstractA girl with a sickle cell trait had severe VOCs (vaso‐occlusive crises), her father also had a sickle cell trait but mild VOCs, and her mother had no symptoms. Electrophoresis on agarose gel under alkaline conditions showed haemoglobin AS (HbAS) in the girl and in her father, with an S band increased more than expected (46.2% and 41.2% respectively), and a band migrating at C (16.8% and 8.9% respectively) in both. There was a band at S (19.6 %) in her mother. The C band was attributed to a hybrid tetramer with haemoglobin S (HbS) and a Hb variant. A homozygous c.46G>C mutation (Hb Ottawa, the Hb variant) was detected by Sanger sequencing in the girl. Heterozygosity for Hb Ottawa by Sanger sequencing was shown in both the father and the mother. The father, with HbAS and heterozygous for Hb Ottawa, had mild VOCs. Heterozygosity only for Hb Ottawa did not produce any abnormality in the mother. A sister and two brothers of the index patient presented a Hb variant, probably Hb Ottawa, migrating to the S zone (all 20%) at electrophoresis, without HbS. These last three were asymptomatic. We conclude that Hb Ottawa, an α‐globin variant, contributes along with haemoglobin S (HbS) to VOC symptoms.