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Intractable & Rare Diseases Research May 2015Epidemiological information of hereditary spherocytosis in China is slight. This systematic review summarizes the number of cases of hereditary spherocytosis reported in...
A systematic review of hereditary spherocytosis reported in Chinese biomedical journals from 1978 to 2013 and estimation of the prevalence of the disease using a disease model.
Epidemiological information of hereditary spherocytosis in China is slight. This systematic review summarizes the number of cases of hereditary spherocytosis reported in China Biology Medicine disc from 1978 to 2013. In total, 2,043 cases were reported in the past 36 years. We describe its distribution from time and space. We also estimate the literature reported prevalence of hereditary spherocytosis by DisMod-II software, overall prevalence in China was estimated to be: 1.27 cases per 100,000 people in males and 1.49 cases per 100,000 people in females. All results suggest a stronger network of diagnosis and treatment including all levels of hospitals should be created to improve healthcare for hereditary spherocytosis and even other rare diseases in the future, meanwhile we can obtain more useful information for orphan drug designation purposes and make public health decisions regarding such diseases through the use of the burden of disease models.
PubMed: 25984425
DOI: 10.5582/irdr.2015.01002 -
BMC Medical Genomics Dec 2022The incidence of hereditary spherocytosis (HS) is approximately 1:2000 in the western population, while it is much lower in the Chinese population. It is difficult to...
BACKGROUND
The incidence of hereditary spherocytosis (HS) is approximately 1:2000 in the western population, while it is much lower in the Chinese population. It is difficult to make a definite diagnosis due to the variable genotypic features and the lack of well-documented evidence for HS patients. Gene sequence examination is helpful for clear diagnosis.
CASE PRESENTATION
We presented the case of a 29-year-old male HS patient with skin yellowness, anorexia, and cholecystolithiasis as the first manifestations. Laboratory examination of the patient and his parents showed a mild reduction in hemoglobin and mean corpuscular hemoglobin concentration, increased reticulocytes, and promotion of indirect bilirubin in the patient and his father. Furthermore, small globular red blood cells with increased osmotic fragility were observed. In particular, the eosin-5'-maleimide binding test provided the strong evidence that band 3 protein was deleted in the erythrocyte membrane. Next-generation sequencing (NGS) and Sanger sequencing further demonstrated a heterozygous nonsense variant (exon16, c.G1985A: p.W662X) in SLC4A1, inherited from his father. Thus, the patient was diagnosed with HS, and then was effectively treated. After splenectomy, the anemia was relieved without any obvious unpleasant side effects.
CONCLUSION
We report an extremely rare case of HS in China that presented with hereditary hemolytic anemia with band 3 deletion resulting from a novel variant of SLC4A1, and systematically review a large number of related literatures. This study, therefore, significantly contributes to the literature on HS.
Topics: Adult; Humans; Male; Anion Exchange Protein 1, Erythrocyte; Asian People; Erythrocytes; Genotype; Heterozygote; Spherocytosis, Hereditary
PubMed: 36463227
DOI: 10.1186/s12920-022-01399-2