Thirteen‐month‐old girl with hyporegenerative macrocytic anemia due to Brown–Vialetto–Van Laere syndrome 2
Sign Up to like & getrecommendations! Published in 2022 at "American Journal of Hematology"
DOI: 10.1002/ajh.26573
Abstract: A 13-month-old girl was admitted to the clinic with a newly acquired horizontal nystagmus that had been present for 4 weeks. Additionally, she had not made any further motor developmental steps in the last 4… read more here.
Keywords: macrocytic anemia; month old; hyporegenerative macrocytic; old girl ... See more keywords
Low Frequency of Folate and Vitamin B12 Deficiency in Patients with Marked Macrocytic Anemia
Sign Up to like & getrecommendations! Published in 2022 at "Journal of General Internal Medicine"
DOI: 10.1007/s11606-022-07451-2
Abstract: Awidely used anemia classification system subdivides anemia as microcytic, normocytic, or macrocytic, according to the mean corpuscular volume (MCV) of the red blood cell. The most common etiology for megaloblastic anemia, a subset of macrocytic… read more here.
Keywords: folate vitamin; macrocytic anemia; folate; vitamin b12 ... See more keywords
Refractory macrocytic anemias in patients with clonal hematopoietic disorders and isolated mutations of the spliceosome gene ZRSR2.
Sign Up to like & getrecommendations! Published in 2017 at "Leukemia research"
DOI: 10.1016/j.leukres.2017.09.002
Abstract: Although mutations in RNA splicing genes occur frequently in patients with clonal cytopenias of unknown significance (CCUS) and myelodysplastic syndromes (MDS), very often additional common myeloid gene driver mutations are present at diagnosis. Thus, the… read more here.
Keywords: zrsr2; patients clonal; macrocytic anemia; gene ... See more keywords
ZRSR2 mutation in a child with refractory macrocytic anemia and Down Syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Pediatric Hematology and Oncology"
DOI: 10.1080/08880018.2019.1621969
Abstract: Abstract Here we report a case of refractory macrocytic anemia with a spliceosomal point mutation involving the ZRSR2 gene in a child with Down syndrome (DS). Such mutations have been shown to cause refractory macrocytic… read more here.
Keywords: anemia; zrsr2 mutation; macrocytic anemia; refractory macrocytic ... See more keywords
A Case-Control Study of the MTHFR C665T Gene Polymorphism on Macrocytic Anemia Among HIV-Infected Patients Receiving Zidovudine
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DOI: 10.2147/jmdh.s370536
Abstract: Background Macrocytic anemia is the most common anemia in HIV-infected patients receiving zidovudine, and is closely related to folate and vitamin B12 deficiencies. Homocysteine >10 μmol/L and increased MMA (methylmalonic acid) levels >24.8 ng/mL indicate… read more here.
Keywords: macrocytic anemia; mthfr c665t; hiv infected; c665t gene ... See more keywords