Hereditary spherocytosis screening: Difference between revisions
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==Screening== | ==Screening== | ||
* The screening test used for hereditary spherocytosis is automated mean cell hemoglobin concentration (MCHC).<ref>{{Cite journal | |||
| author = [[L. A. Michaels]], [[A. R. Cohen]], [[H. Zhao]], [[R. I. Raphael]] & [[C. S. Manno]] | |||
| title = Screening for hereditary spherocytosis by use of automated erythrocyte indexes | |||
| journal = [[The Journal of pediatrics]] | |||
| volume = 130 | |||
| issue = 6 | |||
| pages = 957–960 | |||
| year = 1997 | |||
| month = June | |||
| pmid = 9202619 | |||
}}</ref> | |||
* Erythrocyte distribution width when raised is also useful as a powerful screening test.<ref>{{Cite journal | |||
| author = [[Silvia Eandi Eberle]], [[Gabriela Sciuccati]], [[Mariana Bonduel]], [[Lilian Diaz]], [[Raquel Staciuk]] & [[Aurora Feliu Torres]] | |||
| title = [Erythrocyte indexes in hereditary spherocytosis] | |||
| journal = [[Medicina]] | |||
| volume = 67 | |||
| issue = 6 Pt 2 | |||
| pages = 698–700 | |||
| year = 2007 | |||
| month = | |||
| pmid = 18422060 | |||
}}</ref> | |||
* The combination of these two tests (MCHC & erythrocyte distribution width) is an excellent predictor for the diagnosis of hereditary spherocytosis.<ref name="MichaelsCohen1997">{{cite journal|last1=Michaels|first1=Lisa A.|last2=Cohen|first2=Alan R.|last3=Zhao|first3=Huaqing|last4=Raphael|first4=Robert I.|last5=Manno|first5=Catherine S.|title=Screening for hereditary spherocytosis by use of automated erythrocyte indexes|journal=The Journal of Pediatrics|volume=130|issue=6|year=1997|pages=957–960|issn=00223476|doi=10.1016/S0022-3476(97)70283-X}}</ref> | |||
'''Prenatal testing, family testing, and genetic counseling''' — | '''Prenatal testing, family testing, and genetic counseling''' — | ||
* For young patients with HS, we obtain a full family history and obtain a CBC, reticulocyte count, and examination of the peripheral blood smear on each parent and sibling in order to determine whether the spherocytic mutation is dominant or recessive. Appropriate counseling can be performed once this information has been obtained. It is especially important to test a newborn sibling for HS, as this may be associated with severe degrees of hyperbilirubinemia and anemia during this period. | * For young patients with HS, we obtain a full family history and obtain a CBC, reticulocyte count, and examination of the peripheral blood smear on each parent and sibling in order to determine whether the spherocytic mutation is dominant or recessive. Appropriate counseling can be performed once this information has been obtained. It is especially important to test a newborn sibling for HS, as this may be associated with severe degrees of hyperbilirubinemia and anemia during this period. | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
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Overview
- There is no screening test for HS has been recommended.
- For individuals of childbearing age with HS, review of the familial mutation and its mode of transmission (autosomal dominant or recessive) may be useful for informing discussions of the likelihood of HS 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.
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]
Prenatal testing, family testing, and genetic counseling —
- For young patients with HS, we obtain a full family history and obtain a CBC, reticulocyte count, and examination of the peripheral blood smear on each parent and sibling in order to determine whether the spherocytic mutation is dominant or recessive. Appropriate counseling can be performed once this information has been obtained. It is especially important to test a newborn sibling for HS, as this may be associated with severe degrees of hyperbilirubinemia and anemia during this period.
- For individuals of childbearing age with HS, review of the familial mutation and its mode of transmission (autosomal dominant or recessive) may be useful for informing discussions of the likelihood of HS 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] Some individuals who had HS as a child and were treated with splenectomy may have forgotten about the condition or may not realize the implications for their child.
- It is also important to test newborns of affected parents for HS, as affected newborns may have severe hyperbilirubinemia and anemia. This may be done by a clinician with expertise in hemolytic anemias or by a genetic counselor. It is possible for an individual with no hemolysis, no spherocytes on the blood smear, and a normal reticulocyte count to be a carrier of HS, which may be relevant in certain families
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.