Question

1- Why are thalassemias considered a separate entity from hemoglobinopathies?

2- Correlate the mutation type to each of the disorders below: Alpha thal major Beta thal major Alpha thal silent carrier

3- Nucleated red blood cells in the peripheral blood are a common finding in beta thalassemia patients. Explain why.

4- List the predominating hemoglobins in each of the following disorders: Hgb H disease Alpha thal minor Beta thal major Beta thal intermedia

5- What is the typical electrophoresis pattern in each of the disorders below? Alpha thal minor Hgb H disease Beta thal major Beta thal minor

Answer 1

1.Thalassemias is considered a separate entity because it is one type of hemoglobinopathies that specifically describes a syndrome where les hemoglobin is generated within the body due to a blood disorder.

2.Alpha thal major -all 4 genes are missing

beta thal major -2 defective genes

alpha thal silent carrier-one missing and 3 functional genes

3.The nucleated red blood cells in the peripheral blood suggest that our body is very desperate for RBC and it has started to producing them outside the bone marrow

4. predominating hemoglobins

beta thal major-HbF

beta thal intermedia -HbF

Hbh disease -Hb bart

alpha thal minor-HbA

5. electrophoresis pattern

Normal	HbA%	HbA2%	HbF%	HbH%	Hb Barts%
Alpha thal minor	95	3-4	<1	0	0
Beta thal major	0-5	0-5	>90	0	0
Beta thal minor	90-95	3-10	2-3	0	0
Hbh disease				5-30	20-40