- The common Mediterranean mutation (C563T).
- Two common Chinese mutations.
- Appearing very pale.
- Sudden rise in body temperature.
- Rapid heart beats.
- Shortness of breath.
- Pain in the back or abdomen.
- Urine appears very dark, red, red-brown, brownish or tea colored.
- Yellow coloring of the eyes and skin (jaundice).
- Spleen may be enlarged.
- Liver Function Tests: done to rule out other causes of liver damage and jaundice.
- Coombs test: to check for presence of direct antiglobulin. The results should ideally be negative as RBC breakdown is not an autoimmune condition.
- Haptoglobin: reduced in RBC breakdown (hemolysis).
- Beutler fluorescent spot test: The conversion of nicotinamide adenine dinucleotide phosphate (NADP) to its reduced form in RBCs is the basis of diagnostic testing for the deficiency.
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