[Association of hemoglobin E and thalassemia]

Area of Science:

• Genetics
• Hematology
• Pediatrics

Background:

• Hemoglobin E (Hb E) disease is common in Southeast Asia, typically causing mild hemolytic anemia in homozygous individuals.
• Thalassemia syndromes result from decreased beta-globin production, leading to imbalanced globin chain synthesis.
• Hb E disease represents a thalassemia syndrome due to reduced beta E messenger RNA and imbalanced alpha/beta E chains.

Observation:

• Two children from an Alaouite Syrian family presented with double heterozygosity for Hb E-beta zero thalassemia.
• Clinical, biological, and radiological findings in these patients mimicked those of Cooley disease (thalassemia major).

Findings:

• The identified cases represent the first documented instances of Hb E-beta zero thalassemia in Syria.
• Splenectomy was performed, leading to a decreased frequency of necessary blood transfusions for the affected children.

Implications:

• This finding expands the known geographical distribution of Hb E-beta zero thalassemia.
• Understanding this condition is crucial for diagnosis and management in regions where it was previously undocumented.
• The severity is linked to the interaction between the Hb E gene and beta-thalassemia, exacerbating globin chain imbalance.