Results 1 to 10 of about 12,215 (224)

Thiamine-responsive megaloblastic anemia syndrome with novel compound heterozygous SLC19A2 mutations and thrombotic events: a case report [PDF]

Journal of Medical Case Reports
Background Thiamine-responsive megaloblastic anemia syndrome represents a rare autosomal recessive condition originating from mutations in the SLC19A2 gene.
Francisco Xavier Jiménez, Carlos Rojas, Heidi A. Fernandez, Rossana Ruiz-Urbáez, Carlos Reyes-Silva, Jhonatan Guamán, Mauricio Carrión, Fernando Naranjo-Saltos   +7 more
doaj   +2 more sources

Role of LDH levels in differentiating anemias

Asian Journal of Medical Sciences, 2021
Background: There is a need to differentiate megaloblastic anemia from mixed deficiency anemia as both require different management protocols. With the acquisition of more information about them, tests such as serum vitamin estimation and Schilling test,
Noorin Zaidi , Rasha Zia Usmani , Kshama Tiwari , Sumaiya Irfan , Syed Riaz Mehdi   +4 more
doaj   +1 more source

Massive Splenomegaly: A Rare Presentation of Megaloblastic Anemia

International Journal of Hematology-Oncology and Stem Cell Research, 2021
Megaloblastic anemia is a common disorder with various manifestations. Of the many causes, cobalamin or folate deficiency can eventuate into megaloblastic anemia.
Tahereh Gholipour, Alireza Sadeghi, Padideh Oghab, Pegah Farrokhi, Azadeh Moghaddas   +4 more
doaj   +1 more source

MEGALOBLASTIC ANEMIA IN CHILDREN: CASE SERIES FROM A SINGLE INSTITUTION AND LITERATURE REVIEW [PDF]

Romanian Journal of Pediatrics, 2018
Folic acid and cobalamin are B-group vitamins that play an essential role in many cellular processes. Deficiency in one or both of these vitamins causes megaloblastic anemia, a very rare anemia in children, which is characterized by the presence of ...
Andreea Oltean, Mihaela Ioana Chincesan, Maria Despina Baghiu, Eniko Molnar, Cristina Oana Marginean   +4 more
doaj   +1 more source

Megaloblastic anemia associated with small bowel resection in an adult patient

Nigerian Journal of Medicine, 2021
Megaloblastic anemia is characterized by macro-ovalocytosis, cytopenias, and nucleocytoplasmic maturation asynchrony of marrow erythroblast. The development of megaloblastic anemia is usually insidious in onset, and symptoms are present only in severely ...
Ajayi Adeleke Ibijola, Abiodun Idowu Okunlola   +1 more
doaj   +1 more source

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption [PDF]

, 2009
Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder which is characterized by impaired intestinal folate malabsorption and impaired folate transport into the central nervous system.
Cole, Trevor, Kurian, Manju A., Maher, Eamonn R., Meyer, Esther, Pasha, Shanaz, Trembath, Richard C.   +5 more
core   +2 more sources

Idiopathic autoimmune hemolytic anemia along with concomitant vitamin B12 deficiency in an adolescent girl: A rare occurrence

Journal of Family Medicine and Primary Care, 2020
Vitamin B12 deficiency is seen in countries like India mainly because of predominantly vegetarian diet and is a significant health problem. Patients present with various neurological and hematological manifestations of megaloblastic anemia.
Kapil Bhalla, Nisha Verma, Sanjiv Nanda, Ashish Gupta, Shuchi Mehra   +4 more
doaj   +1 more source

Novel WDR62 and MTR Variants in a Patient With Autosomal Recessive Primary Microcephaly-2 With Polymicrogyria and Homocystinuria-Megaloblastic Anemia [PDF]

Disease and Diagnosis, 2022
Background: Autosomal recessive primary microcephaly-2 (MCPH2) is a rare genetic disorder with clinical and genetic heterogeneity. This study aimed to perform high-throughput whole-exome sequencing (WES) to facilitate the diagnosis of the genetic ...
Tahereh Dianat, Dor Mohammad Kordi Tamandani, Maryam Najafi, Ali Khajeh   +3 more
doaj   +1 more source

Megaloblastic anemia-related iron overload and erythroid regulators: a case report

Journal of Medical Case Reports, 2021
Background In ineffective erythropoiesis, hepcidin synthesis is suppressed by erythroid regulators, namely erythroferrone and growth differentiation factor-15.
Nicolas Vallet, Jean-Baptiste Delaye, Martine Ropert, Amélie Foucault, Noémie Ravalet, Sophie Deriaz, Thomas Chalopin, Hélène Blasco, François Maillot, Olivier Hérault, Emmanuel Gyan   +10 more
doaj   +1 more source

Premarital screening of 466 Mediterranean women for serum ferritin, vitamin B12, and folate concentrations [PDF]

, 2015
Background/aim: Iron, folate, and vitamin B12 serum levels are closely related with dietary habits and have an essential role in the healthy development of a fetus.
Demirciler, İ., Güler, Ömer Tolga, Karabulut, Aysun, Karahan, H.T., Koyuncu, H., Özkan, Sevgi   +5 more
core   +1 more source