Haemoglobin sickle D disease: A presentation with ischaemic stroke

Area of Science:

• Hematology
• Genetics
• Pediatrics

Background:

• Haemoglobin D-Punjab (Hb D-Punjab), also known as Haemoglobin D-Los Angeles, is a prevalent hemoglobin variant, particularly in South Asia.
• While typically inherited asymptomatically in heterozygous states with Haemoglobin A, it can rarely co-occur with other hemoglobinopathies like sickle cell disease or thalassemia.
• Doubly heterozygous states, though rare, can lead to significant clinical manifestations.

Observation:

• This report details a rare case of an 8-year-old girl presenting with an ischemic stroke.
• The patient was diagnosed with a doubly heterozygous state of Haemoglobin D-Punjab and Haemoglobin S (Hb-SD Punjab).
• This presentation is unusual, with only one prior reported case of Hb-SD associated with reversible hyperbilirubinemia.

Findings:

• The case highlights a rare phenotype of Hb-SD Punjab presenting with a severe ischemic stroke in a child.
• This contrasts with the generally asymptomatic or mildly symptomatic nature of heterozygous Hb D-Punjab.
• The occurrence underscores the potential for severe complications in rare doubly heterozygous hemoglobinopathies.

Implications:

• This case emphasizes the critical importance of genetic testing (genotyping) for hemoglobin variants, especially in populations with high prevalence.
• Accurate genotyping is essential to avoid misdiagnosis and ensure appropriate clinical management and genetic counseling.
• Preventing life-altering complications, such as stroke, relies on early and precise identification of complex hemoglobinopathies.