[MIM 141 900]

Extremely rare: only a few cases described. Unstable hemoglobin due to a mutation in the HBB gene (11p15.4) resulting in the replacement of leucine by proline in the β-chain of hemoglobin. This is generally a de novo mutation, but a few cases of autosomal dominant transmission have been described. As this hemoglobin is highly unstable, diagnosis generally requires a molecular biology test (DNA sequencing) on fresh blood.

Clinical presentation:        severe hemolytic anemia with frequent transfusions. Transfusions are less frequent if the hemoglobin F level is high.

A case has been described that was complicated with Moya-moya disease (see this term)

Diagnosis: dyserythropoiesis with basophilic stippling of pale red blood cells, Heinz bodies, reticulocytosis.

Treatment: splenectomy (mean age: 4 years) with variable effect, iron chelation therapy

Anesthetic implications: 

check hemoglobin level, thromboprophylaxis

References : 

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Updated: February 2024