Slc4a1 spherocytosis
WebOct 27, 2024 · ANK1 SLC4A1 SPTA1 SPTB EPB42 Biological parents can pass this mutation on to their children. In most cases, an autosomal dominant pattern passes on the gene. This means that a child only needs... WebList of variants in gene. SLC4A1. studied for hereditary spherocytosis type 4. BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP--WALDNER TYPE; BLOOD GROUP--FROESE; BLOOD GROUP--WRIGHT ANTIGEN; Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; Cryohydrocytosis; Autosomal dominant distal …
Slc4a1 spherocytosis
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WebHereditary spherocytosis type 4 Synonyms Hemolytic Anemia due to Band 3 Montefiore; SLC4A1-Related Hereditary Spherocytosis; SLC4A1-Related Spherocytosis; … WebDec 3, 2024 · A novel variant of SLC4A1 for hereditary spherocytosis in a Chinese family: a case report and systematic review Jie Li, Xiaozi Wang, Na Zheng, Xiaoning Wang, Yan Liu & Liying Xue BMC Medical Genomics 15, Article number: 250 ( 2024 ) Cite this article 909 Accesses Metrics Abstract Background
WebJan 27, 2024 · The gene analysis identified a heterozygous mutation with c.166A > G (p.Lys56Glu) in the SLC4A1 gene in this proband, his mother, and maternal uncle. In case … WebFeb 1, 2013 · BMC Medical Genomics. 2024. TLDR. 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 is reported, and this study significantly contributes …
WebTwenty-five HS patients carried one heterozygous mutation of ANK1 (n = 13) or SPTB (n = 12) but not in SPTA1, SLC4A1, or EPB42. Deleterious mutations including frameshift, nonsense, and splice site mutations were identified in 91% (21/23), and non-hotspot mutations were dispersed across multiple exons. WebJan 24, 2024 · Hereditary spherocytosis (HS) is the most common inherited hemolytic anemia characterized by the presence of spherical-shaped erythrocytes on the peripheral blood smear, hemolysis, splenomegaly ...
WebMar 11, 2024 · SLC1A4, a Na-dependent neutral amino acid transporter, was considered to participate in the various pathobiological process, including tumorigenesis. However, the …
WebJan 12, 2024 · 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 ... glen rose weather forecastWebMar 1, 2010 · Defects of SLC4A1 may cause morphological changes of RBC, including spherocytosis and ovalocytosis, or distal renal tubular acidosis (dRTA)—a kidney disease characterized by a urinary acid-secreting defect resulting in … body shop advent calendar 2018WebHereditary spherocytosis (HS) is the most common inherited hemolytic anemia among people of Northern European descent. HS is caused by mutations in genes encoding the erythroid cytoskeleton proteins ankyrin-1 (ANK1), b-spectrin (SPTB), and α-spectrin (SPTA1), the major intrinsic erythroid membrane protein and chloridebicarbonate exchanger, … glen rose wine and art festivalbody shop advent calendar 2021 usaWebDec 3, 2024 · For HS, variants in SLC4A1 are thought to occur throughout the sequence, including both the membrane and cytosolic domains. Although approximately one-third of … body shop advent calendar 2022 nzWebThe SLC4A1 gene provides instructions for making a protein known as anion exchanger 1 (AE1). This protein transports negatively charged atoms (anions) across cell membranes. Specifically, AE1 exchanges negatively charged atoms of chlorine (chloride ions) for … body shop advent calendar 2022 usaWebDec 10, 2024 · HS, the most common of the RBC membrane disorders, is caused by mutations in the genes SPTA1, SPTB, ANK1, EPB42, or SLC4A1, leading to an RBC membrane skeleton deficient in α- or β-spectrin, ankyrin, protein 4.2, or band 3, respectively. 6-9 These proteins build the scaffold and the vertical connections of the RBC membrane … body shop advent calendar 2021 unboxing