Hereditary spherocytosis screening: Difference between revisions
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==Overview== | ==Overview== | ||
The combination of two [[Test|tests]]; [[Mean corpuscular hemoglobin concentration|mean corpuscular hemoglobin concentration (MCHC)]] and [[Red blood cell distribution width|erythrocyte distribution width]] are an excellent [[Screening (medicine)|screening tests]] for [[hereditary spherocytosis]]. For [[Young adult|young]] [[Patient|patients]] with the [[disease]], a full [[family history]], [[Complete blood count|complete blood count (CBC)]], [[Reticulocyte|reticulocyte count]] and [[Physical examination|examination]] of [[Blood film|peripheral blood smear]] on each parent and sibling is required to determine whether the [[Spherocytosis|spherocytic]] [[mutation]] is [[Autosomal dominant|dominant]] or [[Autosomal recessive|recessive]]. For individuals of childbearing [[Ageing|age]] with [[hereditary spherocytosis]], review of [[Family|familial]] [[mutation]] and its mode of [[Transmission (medicine)|transmission]] is useful for discussions of likelihood of [[disease]] in [[Child|children]]. | |||
==Screening== | ==Screening== | ||
* The screening test used for hereditary spherocytosis is automated mean cell hemoglobin concentration (MCHC).<ref>{{Cite journal | * The [[Screening (medicine)|screening test]] used for [[hereditary spherocytosis]] is automated [[Mean corpuscular hemoglobin concentration|mean cell hemoglobin concentration (MCHC)]].<ref>{{Cite journal | ||
| author = [[L. A. Michaels]], [[A. R. Cohen]], [[H. Zhao]], [[R. I. Raphael]] & [[C. S. Manno]] | | 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 | | title = Screening for hereditary spherocytosis by use of automated erythrocyte indexes | ||
| Line 21: | Line 20: | ||
| pmid = 9202619 | | pmid = 9202619 | ||
}}</ref> | }}</ref> | ||
* Erythrocyte distribution width when raised is also useful as a powerful screening test.<ref>{{Cite journal | * [[Red blood cell distribution width|Erythrocyte distribution width]] when raised is also useful as a powerful [[Screening (medicine)|screening test]].<ref>{{Cite journal | ||
| author = [[Silvia Eandi Eberle]], [[Gabriela Sciuccati]], [[Mariana Bonduel]], [[Lilian Diaz]], [[Raquel Staciuk]] & [[Aurora Feliu Torres]] | | author = [[Silvia Eandi Eberle]], [[Gabriela Sciuccati]], [[Mariana Bonduel]], [[Lilian Diaz]], [[Raquel Staciuk]] & [[Aurora Feliu Torres]] | ||
| title = [Erythrocyte indexes in hereditary spherocytosis] | | title = [Erythrocyte indexes in hereditary spherocytosis] | ||
| Line 32: | Line 31: | ||
| pmid = 18422060 | | pmid = 18422060 | ||
}}</ref> | }}</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> | * The combination of these two [[Test|tests]] ([[Mean corpuscular hemoglobin concentration|MCHC]] & [[Red blood cell distribution width|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> | ||
* For [[Young adult|young]] [[Patient|patients]] with [[hereditary spherocytosis]], a full [[family history]] and [[Complete blood count|CBC]], [[Reticulocyte|reticulocyte count]], and [[Physical examination|examination]] of the [[Blood film|peripheral blood smear]] on each parent and sibling is required to determine whether the [[Spherocytosis|spherocytic]] [[mutation]] is [[Autosomal dominant|dominant]] or [[Autosomal recessive|recessive]]. | |||
* Appropriate [[counseling]] is also required once this information has been obtained and it is especially important to [[test]] a [[Infant|newborn]] sibling for [[hereditary spherocytosis]], as this may be associated with severe degrees of [[Jaundice|hyperbilirubinemia]] and [[anemia]] during this period. | |||
* For individuals of childbearing age with [[hereditary spherocytosis]], review of the [[Family|familial]] [[mutation]] and its mode of [[Transmission (medicine)|transmission]] ([[autosomal dominant]] or [[Autosomal recessive|recessive]]) may be useful for informing discussions of the likelihood of [[hereditary spherocytosis]] in [[Child|children]]. If the [[Family|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 [[Pediatrics|pediatrician]] before [[Childbirth|delivery]].<ref name="pmid26009624">{{cite journal| author=Christensen RD, Yaish HM, Gallagher PG| title=A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates. | journal=Pediatrics | year= 2015 | volume= 135 | issue= 6 | pages= 1107-14 | pmid=26009624 | doi=10.1542/peds.2014-3516 | pmc=4444801 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26009624 }}</ref> | |||
* It is also important to [[test]] [[Infant|newborns]] of affected parents for [[hereditary spherocytosis]], as affected [[Infant|newborns]] may have severe [[Jaundice|hyperbilirubinemia]] and [[anemia]]. | |||
* For individuals of childbearing age with | |||
* It is also important to test newborns of affected parents for | |||
==References== | ==References== | ||
Latest revision as of 17:35, 6 December 2018
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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.