The diagnostic protocol for hereditary spherocytosis‐2021 update

Wu, Yangyang; Liao, Lin; Lin, Faquan

doi:10.1002/jcla.24034

Cited by 48 publications

(37 citation statements)

References 52 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…NGS is an extremely important test in the molecular diagnosis of HS in clinical practice, including targeted exome sequencing (TES) and whole exome sequencing (WES) (16). Previous studies have demonstrated the usefulness of the targeted NGS methods in investigating the causal gene variants in patients with HS (17,18). In the present study, we found six novel gene mutations in children with HS.…”

Section: Discussionsupporting

confidence: 49%

Identification of Novel Mutations in Children with Hereditary Spherocytosis by Targeted Exome Sequencing: A Single Center Experience

Kocaaga

ÇAKMAK

2022

Batı Karadeniz Tıp Dergisi

View full text Add to dashboard Cite

Aim: Hereditary spherocytosis (HS) is a prevalent cause of congenital hemolytic anemia in Northern Europeans. It is characterized by spherocytes resulting from defects in the erythrocyte structural membrane proteins spectrin and ankyrin. To date, more than five candidate genes, including ANK1, SPTB, SPTA1, SLC4A1, and EPB42 have been linked to HS. Here, we aim to investigate the presence of novel as well as known mutations in eight Turkish children with clinically suspected HS. Material and Methods: We presented the clinical features of the patients and identified the causative gene variants using targeted exome sequencing. Eight children who were clinically suspected of having HS enrolled in this study. A family and medical history, clinical examination, relevant laboratory test results, osmotic fragility test (OFT), and genetic results were evaluated. Results: Six causative variants, including three ANK1 variants, two SPTB variants and one SLC4A1 variant were detected. All these mutations were novel variants. ANK1 and SPTB are the most common mutant genes in children with HS. Conclusion: This study expanded the mutation spectrum of ANK1, SPTB and SLC4A1. This is the first study to determine the genetic and clinical characteristics of children with HS in Turkey.

show abstract

Section: Discussionsupporting

confidence: 49%

Identification of Novel Mutations in Children with Hereditary Spherocytosis by Targeted Exome Sequencing: A Single Center Experience

Kocaaga

ÇAKMAK

2022

Batı Karadeniz Tıp Dergisi

View full text Add to dashboard Cite

show abstract

“…The typical clinical manifestations of HS are intermittent hemolytic anemia, splenomegaly, and increased bilirubin (mostly indirect bilirubin). A peripheral blood smear will show increased spherocytosis, and laboratory tests will show an increased osmotic fragility (OF) value for the RBC ( 3 ).…”

Section: Introductionmentioning

confidence: 99%

Hereditary spherocytosis complicated by intrahepatic cholestasis: two case reports

Han¹,

Huang²,

Wang³

et al. 2022

Ann Transl Med

View full text Add to dashboard Cite

Background: Hereditary spherocytosis (HS) is not a rare disease in the department of hematology; however, in the late stage of the disease, patients often have very severe cholestasis and are referred to the department of hepatology. Hepatologists may have trouble determining the source of cholestasis, causing treatment difficulties. Case Description:We report two 20-year-old patients complaining of "skin and eyes turned to yellow".Patient 1 had no previous hematologic disorders, and patient 2 had a history of anemia without treatment.Laboratory tests suggested anemia and elevated bilirubin in both patients. The direct bilirubin levels were more significantly elevated than the indirect bilirubin levels in both patients, and the patients both suffered from abdominal pain and pancreatitis. However, the degree of anemia could not fully explain the jaundice.Magnetic resonance imaging findings suggested the presence of hepatosplenomegaly and gallstones. Genetic testing identified new mutations in the relevant genes, ultimately confirming the diagnosis of HS. The liver biopsy results for both patients showed obvious intrahepatic cholestasis. Patient 1 underwent splenectomy at a bilirubin level of 125.4 umol/L, and the bilirubin level returned to normal after surgery, with a good prognosis. However, Patient 2 suffered from pancreatitis during hospitalization and was unable to undergo splenectomy. Endoscopic retrograde cholangiopancreatography was implemented, but the bilirubin level continued to rise, and Patient 2 ultimately gave up treatment and passed away.Conclusions: For hepatologists, identifying the source of jaundice (hemolysis, hepatocyte destruction, or biliary obstruction) is important for treatment, supplemented by liver biopsy and genetic testing if necessary.In the 2 cases covered in this article, early-stage HS caused hemolytic jaundice with predominantly elevated indirect bilirubin, and as the disease progressed, patients developed severe cholestasis probably related to transient biliary obstruction caused by gallstones and hepatocellular injury due to abnormal bilirubin metabolism. In addition, in patients with HS combined by intrahepatic cholestasis, early consideration of splenectomy may delay disease progression and achieve a better prognosis. Of course, this conclusion needs to be confirmed by more clinical studies.

show abstract

“…Diagnosis is usually made by evaluation of clinical and hematological findings and family history. Genetic analysis for the specific protein mutations can be performed however it is not essential for the diagnosis generally (34)(35)(36)(37). Folic acid supplementation is recommended in these patients with a dose of 1 mg/day.…”

Section: Membranopathiesmentioning

confidence: 99%

Inherited hemolytic anemias in children

Akyol¹,

Tahiroğlu²,

Ünal³

2022

Kastamonu Med J

View full text Add to dashboard Cite

Inherited hemolytic anemia is one of the most commonly seen anemias encountred in the pediatric age, especially in Türkiye, where consanguineous marriages are common. Inherited hemolytic anemias mainly includes hemoglobinopathies, erythrocyte membrane defects and enzyme defects. Hemolytic anemias have a wide etiology and clinical spectrum with acquired and hereditary causes in childhood. Always a careful self and family history review and synthesis of physical examination and laboratory findings are vital for differential diagnosis. Therefore, physicians should be competent about prevention methods and early diagnosis markers.

show abstract

The diagnostic protocol for hereditary spherocytosis‐2021 update

Cited by 48 publications

References 52 publications

Identification of Novel Mutations in Children with Hereditary Spherocytosis by Targeted Exome Sequencing: A Single Center Experience

Identification of Novel Mutations in Children with Hereditary Spherocytosis by Targeted Exome Sequencing: A Single Center Experience

Hereditary spherocytosis complicated by intrahepatic cholestasis: two case reports

Inherited hemolytic anemias in children

Contact Info

Product

Resources

About