Thrombosis in Hb Taybe [codons 38/39 (-ACC) (α1)]

Area of Science:

• Hematology
• Genetics

Background:

• Hemoglobin (Hb) variants can cause significant hematological disorders.
• Hb Taybe, an unstable Hb variant, results from a specific deletion in the α1-globin gene.
• Compound heterozygosity for globin gene mutations can lead to complex clinical presentations.

Observation:

• A Palestinian male presented with moderate hemolytic anemia since childhood.
• The patient had Hb Taybe and a 5 bp deletion at the splice donor site of the α2-globin gene (IVS-I).
• He developed priapism post-splenectomy and experienced a pontine infarction at age 28, with a co-existing prothrombin G20210A mutation.

Findings:

• This is the first reported case of compound heterozygosity for Hb Taybe and an α2-globin gene splice donor site deletion.
• Intravascular hemolysis, splenectomy, and the prothrombin G20210A mutation are hypothesized to contribute to the patient's thrombotic tendency.
• The combination of genetic factors and clinical history provides insight into complex thrombophilia.

Implications:

• This case highlights the importance of comprehensive genetic analysis in patients with unexplained thrombotic events and hemolytic anemia.
• Understanding rare Hb variants and their interactions is crucial for accurate diagnosis and management.
• Further research may elucidate the precise mechanisms linking these genetic mutations to thrombotic complications.