Hereditary spherocytosis screening
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Overview
The combination of two tests; mean corpuscular hemoglobin concentration (MCHC) and erythrocyte distribution width are an excellent screening tests for hereditary spherocytosis. For young patients with the disease, a full family history, complete blood count (CBC), reticulocyte count and examination of peripheral blood smear on each parent and sibling is required to determine whether the spherocytic mutation is dominant or recessive. For individuals of childbearing age with hereditary spherocytosis, review of familial mutation and its mode of transmission is useful for discussions of likelihood of disease in children.
Screening
- The screening test used for hereditary spherocytosis is automated mean cell hemoglobin concentration (MCHC).[1]
- Erythrocyte distribution width when raised is also useful as a powerful screening test.[2]
- The combination of these two tests (MCHC & erythrocyte distribution width) is an excellent predictor for the diagnosis of hereditary spherocytosis.[3]
- For young patients with hereditary spherocytosis, a full family history and CBC, reticulocyte count, and examination of the peripheral blood smear on each parent and sibling is required to determine whether the spherocytic mutation is dominant or recessive.
- Appropriate counseling is also required once this information has been obtained and it is especially important to test a newborn sibling for hereditary spherocytosis, as this may be associated with severe degrees of hyperbilirubinemia and anemia during this period.
- For individuals of childbearing age with hereditary spherocytosis, review of the familial mutation and its mode of transmission (autosomal dominant or recessive) may be useful for informing discussions of the likelihood of hereditary spherocytosis in children. If the familial mutation is known to act in an autosomal dominant fashion, it is important to make this information clear in the prenatal record and to make the information available to the pediatrician before delivery.[4]
- It is also important to test newborns of affected parents for hereditary spherocytosis, as affected newborns may have severe hyperbilirubinemia and anemia.
References
- ↑ L. A. Michaels, A. R. Cohen, H. Zhao, R. I. Raphael & C. S. Manno (1997). "Screening for hereditary spherocytosis by use of automated erythrocyte indexes". The Journal of pediatrics. 130 (6): 957–960. PMID 9202619. Unknown parameter
|month=ignored (help) - ↑ Silvia Eandi Eberle, Gabriela Sciuccati, Mariana Bonduel, Lilian Diaz, Raquel Staciuk & Aurora Feliu Torres (2007). "[Erythrocyte indexes in hereditary spherocytosis]". Medicina. 67 (6 Pt 2): 698–700. PMID 18422060.
- ↑ Michaels, Lisa A.; Cohen, Alan R.; Zhao, Huaqing; Raphael, Robert I.; Manno, Catherine S. (1997). "Screening for hereditary spherocytosis by use of automated erythrocyte indexes". The Journal of Pediatrics. 130 (6): 957–960. doi:10.1016/S0022-3476(97)70283-X. ISSN 0022-3476.
- ↑ Christensen RD, Yaish HM, Gallagher PG (2015). "A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates". Pediatrics. 135 (6): 1107–14. doi:10.1542/peds.2014-3516. PMC 4444801. PMID 26009624.