A Pediatrician’s Practical Guide to Diagnosing and Treating Hereditary Spherocytosis in Neonates

Christensen, Robert D.; Yaish, Hassan M.; Gallagher, Patrick G.

doi:10.1542/peds.2014-3516

Cited by 81 publications

(73 citation statements)

References 43 publications

(21 reference statements)

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“…Zudem ist sie die dritthäufigste hämolytische Anämie mit negativem direktem Coombs-Test, die eine Erythrozytentransfusion in den ersten Lebensmonaten notwendig macht [10]: Im klinischen Alltag sollte daher dann an eine hereditäre Sphärozytose gedacht werden, wenn ein Säugling (z. B. bei einer…”

Section: Glucose-6-phosphat-dehydrogenase-mangelunclassified

Indirekte Hyperbilirubinämie

Hauer

2017

Monatsschr Kinderheilkd

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Section: Glucose-6-phosphat-dehydrogenase-mangelunclassified

Indirekte Hyperbilirubinämie

Hauer

2017

Monatsschr Kinderheilkd

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“…Splenomegaly is rarely detected in neonates, and spherocytes are less often observed on blood smears of neonates. Furthermore, biochemical tests, such as osmotic fragility and eosin-5 ′ -maleimide, are unreliable due to the lack of age-appropriate controls [6]. Therefore, the diagnosis of HS in neonates can be challenging [5,6].…”

Section: Introductionmentioning

confidence: 99%

“…Furthermore, biochemical tests, such as osmotic fragility and eosin-5 ′ -maleimide, are unreliable due to the lack of age-appropriate controls [6]. Therefore, the diagnosis of HS in neonates can be challenging [5,6]. Treatment of HS mainly includes blood transfusions and splenectomy to alleviate haemolysis and clinical symptoms.…”

Section: Introductionmentioning

confidence: 99%

Targeted next-generation sequencing identified a novel ANK1 mutation associated with hereditary spherocytosis in a Chinese family

Sun

Xie

et al. 2019

Hematology

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2019) Targeted next-generation sequencing identified a novel ANK1 mutation associated with hereditary spherocytosis in a Chinese family, Hematology, 24:1, 583-587, ABSTRACTObjectives: Hereditary spherocytosis (HS) represents a group of congenital diseases characterized by sphere-shaped erythrocytes on peripheral blood smears. The typical clinical manifestations of HS include haemolysis, jaundice, splenomegaly, and gallstones. Ankyrin1, encoded by the ANK1 gene, is the predominant protein in red blood cells. Defects in ankyrin1 lead to a decrease in erythrocyte surface area, a spherical shape of erythrocytes and, in particular, loss of membrane elasticity and mechanical stability. The purpose of this study was to investigate a Chinese family with HS to determine the causative gene mutation and explore the genotype-phenotype correlation. Methods: A 4-year-old boy was diagnosed with HS based on typical clinical features. In addition, his father had a high possibility of HS. Targeted next-generation sequencing (NGS) followed by Sanger sequencing was performed in the proband and his parents. Results: One mutation in the ANK1 gene was recognized. c1801-1G > C in exon 17, which leads to splicing defects, was detected. To confirm the c1801-1G > C variant, samples from the proband and his parents were analysed by Sanger sequencing, and Sanger verification showed that this mutation was inherited from the father. Conclusion: The present study confirmed that a novel mutation in ANK1 may be causative of HS, which plays an important role in expanding the mutational spectrum of ANK1 mutations. This may contribute to accurate genetic counselling. And it is helpful for understanding the correlation of the genotype and phenotype.

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“…Typical clinical manifestations of HS include anemia, jaundice, and splenomegaly [5]. Newborn infants with HS can develop anemia and hyperbilirubinemia [6]. Additionally, brain encephalopathy can occur in neonates with extreme hyperbilirubinemia.…”

Section: Introductionmentioning

confidence: 99%

Spectrum of Ankyrin Mutations in Hereditary Spherocytosis: A Case Report and Review of the Literature

Luo

Huang

et al. 2018

Acta Haematol

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Background/Aims: Hereditary spherocytosis (HS) is a common pediatric hemolytic anemia caused by congenital red blood cell defects. HS due to ankyrin 1 (ANK1) mutations is the most common type. We explored an ANK1 mutation from an HS patient and reviewed the literature. Methods: We detected the mutation in a Chinese family in which 2 members were diagnosed with HS by next-generation sequencing. The proband was diagnosed with HS in the newborn period, based on clinical manifestations, laboratory data, and family history. The mutation spectrum of the ANK1 gene was summarized based on 85 patients diagnosed with HS carrying ANK1 mutations, and the ANK1 mutation spectrum was summarized and analyzed. Results: We identified a novel mutation affecting ANK1 gene splicing (a splicing mutation) in both the patient and her mother, which is a substitution of T>G 2 nt after exon 25 in intron 26. The study expands our knowledge of the ANK1 gene mutation spectrum, providing a molecular basis for HS. Conclusion: A novel ANK1 mutation (NM_000037.3, c.2960+2T>G, intron 26) that is potentially associated with HS was identified. To date, 80 ANK1 mutations have been reported to be associated with HS in humans.

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A Pediatrician’s Practical Guide to Diagnosing and Treating Hereditary Spherocytosis in Neonates

Cited by 81 publications

References 43 publications

Indirekte Hyperbilirubinämie

Indirekte Hyperbilirubinämie

Targeted next-generation sequencing identified a novel ANK1 mutation associated with hereditary spherocytosis in a Chinese family

Spectrum of Ankyrin Mutations in Hereditary Spherocytosis: A Case Report and Review of the Literature

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