A West African couple present to your surgery, they are planning on having a baby, but they are both known to be sickle-cell trait. They have come to discuss the chances of their baby being affected by the disorder.

1. How is sickle-cell disease inherited?
Show Answer
Sickle-cell disease is an autosomal recessive blood disorder characterised by the development of abnormal, sickle-shaped red blood cells in response to various triggers, including hypoxia, dehydration, stress and infection.
2. What is the cause of sickle-cell disease?
Show Answer

Sickle-cell disease is caused by a point mutation in the beta-globin chain of haemoglobin, causing glutamic acid to be replaced by valine at the sixth position. The beta-globin gene is found on chromosome 11.

3. What is sickle-cell trait?
Show Answer

Sickle-cell trait is the heterozygous, or carrier state, of sickle-cell disease, in which a person has one abnormal allele and one normal allele. The two alleles are co-dominant, and, therefore, patients that are sickle-cell trait create both normal and abnormal haemoglobin. They, therefore, do not display the same severity of disease symptoms as those patients that have sickle-cell disease.

4. What is the probability that their child will develop sickle-cell disease?
Show Answer

As with all autosomal recessive conditions, if both parents are carriers (sickle-cell trait) then there is a 50% chance of their child being an unaffected carrier (being sickle-cell trait), a 25% chance of the child being unaffected and a 25% chance of the child going on to develop the condition (sickle-cell disease).

 

Header image used on licence from Shutterstock

Pin It on Pinterest