Hemoglobinopathies: Causes, Types, And Clinical Significance

Hemoglobinopathies: Causes, Types, And Clinical Significance

Question 1. Abnormal hemoglobins.
Answer:

Abnormal hemoglobins are the result of mutations in the genes that code for the a and b chains of globin.

As many as 400 mutant hemoglobins are known. About 95% of them are due to alteration in a single amino acid of globin.

Hemoglobinopathies:

It is a term used to describe the disorders caused by the synthesis of the abnormal hemoglobin molecule or the production of insufficient quantities of normal hemoglobin or rarely both.

Sickle-cell anemia (HbS) and hemoglobin C disease (HbC) are the classical examples of abnormal hemoglobins.

Thalassemia, on the other hand, is caused by decreased synthesis of normal hemoglobin.

Question 2. The normal value of bile acids
Answer:

Bile acids:

• In hepatic: 1.93%
• In gall bladder: 9.14%

Question 3. Glycosylated form of hemoglobin
Answer:

• Glucose-derived products of normal adult hemoglobin are referred to as glycosylated hemoglobin
• It is used for monitoring diabetes control
• It is the best index for long-term control of blood glucose levels
• It reflects the mean blood glucose level over a 2-month period prior to its measurement

Value:

• Normal concentration-3-5% of total hemoglobin
• In diabetes- 15% of total hemoglobin