TY - JOUR
T1 - Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis
AU - Yamamoto, Keiko Shimojima
AU - Utshigisawa, Taiju
AU - Ogura, Hiromi
AU - Aoki, Takako
AU - Kawakami, Takahiro
AU - Ohga, Shoichi
AU - Ohara, Akira
AU - Ito, Etsuro
AU - Yamamoto, Toshiyuki
AU - Kanno, Hitoshi
N1 - Funding Information:
We appreciate the cooperation of the patients and their families. This work was supported by grants received from the Ministry of Health, Labor, and Welfare.
Publisher Copyright:
© 2021, The Author(s).
PY - 2022/12
Y1 - 2022/12
N2 - Hereditary spherocytosis is the most frequent cause of hereditary hemolytic anemia and is classified into five subtypes (SPH1-5) according to OMIM. Because the clinical and laboratory features of patients with SPH1-5 are variable, it is difficult to classify these patients into the five subtypes based only on these features. We performed target capture sequencing in 51 patients with hemolytic anemia associated with/without morphological abnormalities in red blood cells. Thirteen variants were identified in five hereditary spherocytosis-related genes (six in ANK1 [SPH1]; four in SPTB [SPH2]; and one in each of SPTA1 [SPH3], SLC4A1 [SPH4], and EPB42 [SPH5]). Among these variants, seven were novel. The distribution pattern of the variants was different from that reported previously in Japan but similar to those reported in other Asian countries. Comprehensive genomic analysis would be useful and recommended, especially for patients without a detailed family history and those receiving frequent blood transfusions due to chronic hemolytic anemia.
AB - Hereditary spherocytosis is the most frequent cause of hereditary hemolytic anemia and is classified into five subtypes (SPH1-5) according to OMIM. Because the clinical and laboratory features of patients with SPH1-5 are variable, it is difficult to classify these patients into the five subtypes based only on these features. We performed target capture sequencing in 51 patients with hemolytic anemia associated with/without morphological abnormalities in red blood cells. Thirteen variants were identified in five hereditary spherocytosis-related genes (six in ANK1 [SPH1]; four in SPTB [SPH2]; and one in each of SPTA1 [SPH3], SLC4A1 [SPH4], and EPB42 [SPH5]). Among these variants, seven were novel. The distribution pattern of the variants was different from that reported previously in Japan but similar to those reported in other Asian countries. Comprehensive genomic analysis would be useful and recommended, especially for patients without a detailed family history and those receiving frequent blood transfusions due to chronic hemolytic anemia.
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U2 - 10.1038/s41439-021-00179-1
DO - 10.1038/s41439-021-00179-1
M3 - Article
AN - SCOPUS:85122850250
SN - 2054-345X
VL - 9
JO - Human Genome Variation
JF - Human Genome Variation
IS - 1
M1 - 1
ER -