0808L - CASE ANALYSIS: SICKLE CELL

Background

Mr Yusuf Ahmad and Mrs Bilqis Ahmad were married in their late 40s and immediately tried to conceive. Their marriage was unusual because the husband had been married to the wife’s elder sister for 15 years and she had died in a car accident the previous year. When the wife became pregnant she was very careful to get proper ante-natal care. In one of the sessions she was asked about genetic diseases in her family and sickle cell was mentioned in particular because it was a common condition in Nigeria. She could not remember any member of her family having any genetic disease. She however had left her home in Nigeria and had lived abroad for about 15 years and was not really sure about all relatives because she was not in contact with most of them. When she went home she asked her husband about sickle cell disease in his side of the family but he kept quiet. After watching a TV program on congenital diseases she suggested to her husband that they undergo tests for diseases like sickle cell disease. The husband refused to go but the wife went

Q1. What problem can you identify so far?

Tests for the wife at the Nigerian hospital

	Mrs Bilqis	Normal range
Hemoglobin	12.0	115-165ng/Liter
Mean Cell Hemoglobin	30	27-32 pg
Mean cell volume	80	78-98fl
Packed cell volume (hematocrit)	0.35	0.37-0.47
Red blood cell count	4.0	3.8-5.8 x 1012
Red Blood cell lifespan	30	25-35 days
Hemoglobin genotype	AS

Q2. What is the problem in Balqis so far?

Genetic counseling

Mrs Bilqis went to see a genetic counselor to know the risk of disease in her children. The geneticists computed the probabilities based on various genotpic scenarios in the father and mother.

Q2. Compute probabilities of sickle cell disease assuming the following scenarios

Father	Mother
AS	AS
AA	AS

Tests for the child at the Brunei hospital

Delivery was normal and the Aneesa Ahmad was a healthy baby. Her growth was uneventful until the parents relocated to Brunei when Aneesa was 6 years old. She started faltering in her growth and had pains in the legs. She was taken to RIPAS hospital where investigations showed the following:

	Aneesa	Normal range
Hemoglobin	6.0	115-165ng/Liter
Mean Cell Hemoglobin	25	27-32 pg
Mean cell volume	70	78-98fl
Packed cell volume (hematocrit)	030	0.37-0.47
Red blood cell count	3.0	3.8-5.8 x 1012
Red Blood cell lifespan	15	25-35 days
Hemoglobin genotype	SS

Q3. Summarize the findings

When Aneesa was diagnosed to have sickle cell disease at RIPAS hospital, both parents were very distressed and angry. The mother wondered of all people she was the one who got an abnormal baby. Was it a curse from God? Did she commit a major sin?

At home

In their distress the parents accusing each other about who was responsible for the disease. The wife was angry that her husband did not agree to go for a sickle cell test during pregnancy. She also suspected that he knew about sickle cell disease in his family and he should have suggested testing before they got married. The husband explained that he could not be the source of the problem. He had been married to his cousin and had 2 normal children with her. When he divorced her, he had married Bilqis’s sister who bore him 2 normal children before dying in an accident. After further quarrels with the wife he reluctantly agreed to be tested. The hematologist found him to have an AS genotype.

Q4. Explain the difference between genotype and phenotypic expression

Q5. Summarize the ethico-legal issues in this case and explain how you would address them