MRCP UK EXAMINATIONS

ABDOMINAL

THALASSEMIA

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
In which part of the world is the a gene mutation causing Hb Bart hydrops fetalis ( ____ / ____ ) most common?
A
Northern Africa
B
Mediterranean
C
Middle East
D
Southeast Asia
Explanation: 

Detailed explanation-1: -Hydrops fetalis associated with Bart’s hemoglobin in northern Thailand. Homozygous -thalassaemia: Clinical presentation, diagnosis and management.

Detailed explanation-2: -Haemoglobin Constant Spring (CS), the most common non-deletional +-thalassaemia in Southeast Asia, is a variant with elongated -globin chains.

Detailed explanation-3: -Southeast Asia: 1-30% of the population has a thalassemia trait, with up to 40% of this population potentially being genetic carriers.

Detailed explanation-4: -Hemoglobin Barts hydrops fetalis syndrome, the most severe and generally fatal clinical phenotype of a-thalassemia, is due to the deletion of all four functional -globin genes of the hemoglobin, resulting in no -globin chain production.

There is 1 question to complete.