{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T14:07:59Z","timestamp":1760710079451,"version":"3.40.5"},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,12,19]],"date-time":"2019-12-19T00:00:00Z","timestamp":1576713600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary spherocytosis (HS) is the most common cause of inherited, nonimmune hemolytic anemia. When inherited in an autosomal dominant fashion, the anemia is typically mild. However, severe, transfusion\u2010dependent anemia is seen in autosomal recessive HS, which is often associated with deficient or absent red blood cell membrane protein alpha\u2010spectrin. We report a 26\u2010year\u2010old para one who was referred to our center at 28\u2009weeks' gestation due to concerns for fetal anemia. Evaluation revealed elevated peak systolic velocity in the middle cerebral artery by Doppler scan and fetal cardiomegaly. Fetal hematocrit obtained by sampling the umbilical vein was 9% confirming severe fetal anemia. Fetal peripheral smear was consistent with hereditary spherocytosis. Genetic analysis of both parents confirmed heterozygosity for the <jats:italic>SPTA1<\/jats:italic> variants (pathogenic variant c.4180del (p.C1394Afs*25), and a variant of uncertain significance, c.1677G&gt;T (p.G449G)) detected by a hemolytic anemia panel in the patient's first child. It is important to consider genetic causes of anemia in patients presenting with severe nonimmune fetal anemia, including autosomal recessive HS. We present a case of autosomal recessive HS with a novel pathogenic variant in the SPTA1 gene which resulted in significant impact on prenatal management.<\/jats:p>","DOI":"10.1002\/ajmg.a.61455","type":"journal-article","created":{"date-parts":[[2019,12,19]],"date-time":"2019-12-19T10:53:15Z","timestamp":1576752795000},"page":"561-564","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A family affair\u2014Severe fetal and neonatal hemolytic anemia due to novel alpha\u2010spectrin mutations in two siblings"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0387-2755","authenticated-orcid":false,"given":"Roopali","family":"Donepudi","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Baylor College of Medicine and Texas Children's Fetal Center  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren","family":"Westerfield","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashley","family":"Stonecipher","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Baylor College of Medicine and Texas Children's Fetal Center  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmed","family":"A. Nassr","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Baylor College of Medicine and Texas Children's Fetal Center  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magdalena S.","family":"Cortes","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Baylor College of Medicine and Texas Children's Fetal Center  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jimmy","family":"Espinoza","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Baylor College of Medicine and Texas Children's Fetal Center  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Belfort","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Baylor College of Medicine and Texas Children's Fetal Center  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alireza","family":"Shamshirsaz","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Baylor College of Medicine and Texas Children's Fetal Center  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,12,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcl.2013.09.001"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI127195"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.crwh.2017.09.003"},{"key":"e_1_2_7_5_1","unstructured":"Hereditary Spherocytosis. (2019).Genetics Home Reference. Retrieved fromhttp:\/\/ghr.nlm.nih.gov\/condition\/hereditary-spherocytosis."},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2015.01.059"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_8_1","unstructured":"SPHEROCYTOSIS TYPE 1; SPH1.OMIM. (N.D.\u2010a) Retrieved fromhttps:\/\/www.omim.org\/entry\/182900."},{"key":"e_1_2_7_9_1","unstructured":"SPHEROCYTOSIS TYPE 3; SPH3.OMIM. (N.D.\u2010b) Retrieved fromhttps:\/\/www.omim.org\/entry\/270970."},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/jp.2012.67"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61455","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61455","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61455","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61455","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T18:34:54Z","timestamp":1694111694000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61455"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,19]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2020,3]]}},"alternative-id":["10.1002\/ajmg.a.61455"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61455","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2019,12,19]]},"assertion":[{"value":"2019-09-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-02","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}