MRCP UK EXAMINATIONS

ABDOMINAL

THALASSEMIA

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
Hb Bart’s hydrops Fails Why does the child die in the womb or is born within a few minutes?
A
Because the body cannot produce alpha-line globin at all.
B
Because the body cannot produce beta globin at all.
C
Because the body cannot produce globin, gamma line at all.
D
Because the body is unable to produce delta globin at all.
Explanation: 

Detailed explanation-1: -TREATMENT AND PROGNOSIS OF SURVIVING INFANTS With very rare exceptions (see section below), all fetuses with the Hb Bart’s hydrops fetalis syndrome succumb to severe fetal hypoxia in utero during the third trimester of gestation or within hours after birth.

Detailed explanation-2: -A mutation (or mutations) that affects two of the four alpha genes results in a condition that is asymptomatic or only very mild symptoms (alpha thalassemia minor). A mutation (or mutations) that affect three genes results in HbH disease, while defects that affect all four genes result in Hb Bart’s hydrops fetalis.

Detailed explanation-3: -Hemoglobin Bart’s is a tetramer of gamma (fetal) globin chains seen during the newborn period. Its presence indicates that one or more of the four genes that produce alpha globin chains are dysfunctional, causing alpha thalassemia.

There is 1 question to complete.