Haemoglobin Bart's in Saudi Arabia.

Area of Science:

• Medical Genetics
• Hematology

Background:

• Hemoglobin (Hb) variants can indicate genetic disorders.
• Alpha thalassaemia is a common inherited blood disorder.

Purpose of the Study:

• To investigate Hb patterns in Shiite Saudi Arab cord blood.
• To determine the cause of elevated Hb Bart's levels.

Main Methods:

• Alkaline starch-gel electrophoresis of 345 cord blood samples.
• Structural analysis to identify Hb variants.
• [3H]leucine incorporation to measure globin chain synthesis.

Main Results:

• Hb Bart's found in 52% of cases, a record high.
• Elevated Hb Bart's correlated with alpha/non-alpha globin chain imbalance.
• Hb Bart's levels linked to red cell abnormalities and reduced MCH.

Conclusions:

• High Hb Bart's levels are due to alpha thalassaemia in this population.
• Findings suggest an intermediate alpha thalassaemia genotype.
• This genotype differs from alpha thalassaemia I and Hb-H disease phenotypes.