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URMC Department Of MedicineGenetics

Sickle Cell, Thalassemia and other Hemoglobinopathies Recommendations

The American College of Obstetricians and Gynecologists
Recommends Hemoglobinopathy Screening for Pregnant Women.

Group At-Risk Condition Incidence
African-Americans Sickle Cell Trait
Hemoglobin C trait
b-thalassemia trait
8%
3%
1%
Hispanic -Americans Sickle cell trait
4%
Mediterranean origin b-thalassemia trait
1-10%
Indian/Pakistani origin b-thalassemia trait
Hemoglobin D trait
1-15%
1-3%
Southeast Asians b-thalassemia trait
Hemoglobin E trait
1-15%
1-15%

Cellulose acetate electrophoresis is the preferred test for abnormal hemoglobins.

Column chromotography is the method of choice for determining % Hemoglobin A2 which, if elevated, indicates b-thalassemia trait.

References

HEMOGLOBIN: Bunn & Forget p.324
THE THALASSEMIA SYNDROMES: Weatherall & Clegg
Schneider, R.G.; Blood 48:629, 1976
Motulsky, A.G.; N.Engl. J.Med. 288:31 1973
Pediatrics; Vol 98, No. 3, Sept 1996, p 492

 

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