Co-inheritance of Hb Ottawa and HbS: a rare interaction leading to an interesting diagnostic challenge

Kumar, Pankaj; Bugalia, Amit; Thaker, Pallavi; Gorivale, Manju; Hussain, Nighat; Nadkarni, Anita; Mallik, Nabhajit

doi:10.1007/s12308-022-00514-7

Cited by 1 publication

(2 citation statements)

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“…Nevertheless, children of African origin bearing the mutation were discovered in Brazil [7]. There are no clinical or haematological anomalies if the Hb mutation is heterozy- The presence of both HbS and Hb Ottawa in a case has suggested a possible slight haemolysis [14]. However, there were no documented blood anomalies for the child bearing the same mutations, as described in Brazil [7].…”

Section: Discussionmentioning

confidence: 92%

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Haemoglobin Ottawa, sickle cell trait and vaso‐occlusive crises

Bobillier,

Derclaye,

Ferrant

et al. 2024

eJHaem

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A 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.

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Section: Discussionmentioning

confidence: 92%

“…The presence of both HbS and Hb Ottawa in a case has suggested a possible slight haemolysis [14]. However, there were no documented blood anomalies for the child bearing the same mutations, as described in Brazil [7].…”

Section: Discussionmentioning

confidence: 99%