Severe hereditary spherocytosis presenting with non-immune fetal hydrops
Background: Hereditary spherocytosis (HS) is characterized by spherocytes on the peripheral smear and heterogeneous clinical presentation (mild, moderate, moderate/severe, and severe) depending upon the severity of hemolytic anemia, jaundice, and splenomegaly. The underlying cause is defects in vari...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Indian Pediatrics Case Reports |
| Subjects: | |
| Online Access: | http://www.ipcares.org/article.asp?issn=2772-5170;year=2023;volume=3;issue=1;spage=27;epage=30;aulast=Mallakmir |
| _version_ | 1797245412132782080 |
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| author | Snehal Mallakmir Rashid Merchant Nandkishor S Kabra Javed Ahmed |
| author_facet | Snehal Mallakmir Rashid Merchant Nandkishor S Kabra Javed Ahmed |
| author_sort | Snehal Mallakmir |
| collection | DOAJ |
| description | Background: Hereditary spherocytosis (HS) is characterized by spherocytes on the peripheral smear and heterogeneous clinical presentation (mild, moderate, moderate/severe, and severe) depending upon the severity of hemolytic anemia, jaundice, and splenomegaly. The underlying cause is defects in various red blood cell membrane proteins due to pathogenic mutations. Genotype-phenotype correlation is known. Clinical Description: We report a consanguineous family with a healthy daughter, multiple pregnancy losses due to fetal hydrops, and the current daughter. She was diagnosed with fetal anemia at 22 weeks gestation, developed fetal hydrops, was born premature and developed respiratory distress, severe anemia, severe jaundice, and postnatal hemolysis. Management: The case was managed since intrauterine life till date by multispecialty coordination. Intrauterine transfusions were given during pregnancy. In the neonatal period, she received surfactant for respiratory distress syndrome, double volume exchange transfusion and phototherapy for the jaundice, and repeated blood transfusions for the hemolytic anemia, that is still continuing. Rational and sequential investigations were planned and a systematic approach used. She was diagnosed with severe HS due to a homozygous likely pathogenic variant in the SPTA1 gene (affecting formation of spectrin), and heterozygous variant of uncertain significance in the ANK1 gene (that encodes ankyrin). At 3 years she has transfusion dependent hemolytic anemia, moderate splenomegaly, and age appropriate growth and development. Conclusions: HS is a rare but manageable (albeit challenging) cause of nonimmune hydrops fetalis. Genetic diagnosis allows precise management and family counselling. |
| first_indexed | 2024-04-24T19:26:29Z |
| format | Article |
| id | doaj.art-6476bffcd2f449b89b8d7ee3ff91264b |
| institution | Directory Open Access Journal |
| issn | 2772-5170 2772-5189 |
| language | English |
| last_indexed | 2024-04-24T19:26:29Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Pediatrics Case Reports |
| spelling | doaj.art-6476bffcd2f449b89b8d7ee3ff91264b2024-03-25T15:39:24ZengWolters Kluwer Medknow PublicationsIndian Pediatrics Case Reports2772-51702772-51892023-01-0131273010.4103/ipcares.ipcares_170_22Severe hereditary spherocytosis presenting with non-immune fetal hydropsSnehal MallakmirRashid MerchantNandkishor S KabraJaved AhmedBackground: Hereditary spherocytosis (HS) is characterized by spherocytes on the peripheral smear and heterogeneous clinical presentation (mild, moderate, moderate/severe, and severe) depending upon the severity of hemolytic anemia, jaundice, and splenomegaly. The underlying cause is defects in various red blood cell membrane proteins due to pathogenic mutations. Genotype-phenotype correlation is known. Clinical Description: We report a consanguineous family with a healthy daughter, multiple pregnancy losses due to fetal hydrops, and the current daughter. She was diagnosed with fetal anemia at 22 weeks gestation, developed fetal hydrops, was born premature and developed respiratory distress, severe anemia, severe jaundice, and postnatal hemolysis. Management: The case was managed since intrauterine life till date by multispecialty coordination. Intrauterine transfusions were given during pregnancy. In the neonatal period, she received surfactant for respiratory distress syndrome, double volume exchange transfusion and phototherapy for the jaundice, and repeated blood transfusions for the hemolytic anemia, that is still continuing. Rational and sequential investigations were planned and a systematic approach used. She was diagnosed with severe HS due to a homozygous likely pathogenic variant in the SPTA1 gene (affecting formation of spectrin), and heterozygous variant of uncertain significance in the ANK1 gene (that encodes ankyrin). At 3 years she has transfusion dependent hemolytic anemia, moderate splenomegaly, and age appropriate growth and development. Conclusions: HS is a rare but manageable (albeit challenging) cause of nonimmune hydrops fetalis. Genetic diagnosis allows precise management and family counselling.http://www.ipcares.org/article.asp?issn=2772-5170;year=2023;volume=3;issue=1;spage=27;epage=30;aulast=Mallakmirankyrinhemolytic anemiaspectrinspta1 gene |
| spellingShingle | Snehal Mallakmir Rashid Merchant Nandkishor S Kabra Javed Ahmed Severe hereditary spherocytosis presenting with non-immune fetal hydrops Indian Pediatrics Case Reports ankyrin hemolytic anemia spectrin spta1 gene |
| title | Severe hereditary spherocytosis presenting with non-immune fetal hydrops |
| title_full | Severe hereditary spherocytosis presenting with non-immune fetal hydrops |
| title_fullStr | Severe hereditary spherocytosis presenting with non-immune fetal hydrops |
| title_full_unstemmed | Severe hereditary spherocytosis presenting with non-immune fetal hydrops |
| title_short | Severe hereditary spherocytosis presenting with non-immune fetal hydrops |
| title_sort | severe hereditary spherocytosis presenting with non immune fetal hydrops |
| topic | ankyrin hemolytic anemia spectrin spta1 gene |
| url | http://www.ipcares.org/article.asp?issn=2772-5170;year=2023;volume=3;issue=1;spage=27;epage=30;aulast=Mallakmir |
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