The characteristic of hereditary spherocytosis related gene mutation in 37 Chinese hereditary spherocytisis patients / 中华血液学杂志

Objective: To reveal the genetic characteristics of erythrocyte membrane protein in hereditary spherocytosis (HS) in China. Methods: Next-generation sequencing technology was used to detect mutations in genes of erythrocyte membrane proteins in 51 clinically diagnosed HS patients. The relationship between gene mutations and clinical phenotypes was analyzed. Results: Mutations in erythrocyte membrane protein genes were detected in 37 patients, including 17 with ANK1 mutations (17/37, 45.9%), 14 with SPTB mutations (14/37, 37.8%), and 5 with SLC4A1 mutations (5/37, 13.5%). One patient carried both heterozygous ANK1 mutation and SPTB mutation (1/37, 2.7%). SPTA1 and EPB42 mutation was not fou nd in any patient. Nonsense mutations (36.8%) and missense mutations (31.6%) were most common. Of the 38 mutations detected, 34 were novel mutations and have not been reported elsewhere (89.5%). Sixteen HS patients underwent parental genetic validation, 6 patients (37.5%) inherited gene mutation from parents and 10 (62.5%) were de novo. The peripheral blood cell parameters of HS patients were not related to the mutant genes and gene mutation types. However, it seems that HS patients with mild clinical status are prone to carry SPTB mutations while more patients with severe clinical status have ANK1 mutations. Conclusions: ANK1 and SPTB are the most common mutant genes in Chinese HS patients, mainly with missense mutations and nonsense mutations. There was no significant correlation between the mutation of HS related genes and the severity of HS.

Predisposing factors, diagnosis, treatment and prognosis of cerebral venous thrombosis during pregnancy and postpartum: a case-control study / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Previous investigations have demonstrated a relatively low incidence of stroke among young women, though both pregnancy and delivery can substantially increase the risk. Cerebral venous thrombosis may manifest different characteristics during pregnancy and postpartum as a result of their specific physiological statuses. This study aimed to identify the clinical manifestations, diagnosis, treatment, and prognosis of cerebral venous thrombosis during pregnancy and postpartum.</p><p><b>METHODS</b>We conducted a retrospective analysis of 22 patients with cerebral venous thrombosis who were assigned to either group A (during pregnancy) or group B (during postpartum). The relevant risk factors, initiation and development of the disease, clinical presentations, diagnosis, treatment, and prognosis were compared between the two stages.</p><p><b>RESULTS</b>Cerebral venous thrombosis occurred during both pregnancy and postpartum, but was more common postpartum. Patients in group A had a longer hospitalization period than those in group B. Confirmed predisposing factors in 85.7% of patients of group A were dehydration, infection, and underlying cerebrovascular disorders. No obvious predisposing factors were identified in group B. The most frequent symptom was headache, with epileptic seizures, hemiparalysis and aphasia being less frequent symptoms. Focal neurological symptoms (P = 0.022) and cerebral infarction (P = 0.014) occurred more frequently in group A than in group B. Anticoagulation therapy proved to be safe for cerebral venous thrombosis patients during puerperium, regardless of parenchymal hemorrhage. However, more attention should be paid to spontaneous in-site placental hemorrhage in pregnant patients. Both groups had similar prognoses (P = 1.000), with 36.3% patients suffering from consequential dysfunction or recurrent intracranial hypertension. Delayed diagnosis was associated with a poorer prognosis.</p><p><b>CONCLUSIONS</b>Cerebral venous thrombosis manifests different clinical characteristics during pregnancy and postpartum, though both have a good prognosis. Early diagnosis and prompt anticoagulation therapy are essential.</p>