Results 11 to 20 of about 290,691 (220)

A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome

The Turkish Journal of Pediatrics, 2019
Thiamine-responsive megaloblastic anemia (TRMA) is a very rare syndrome characterized by the triad of early onset megaloblastic anemia, sensorineural deafness and diabetes mellitus.
Işık Odaman-Al, Alper Gezdirici, Melek Yıldız, Gizem Ersoy, Gönül Aydoğan, Zafer Şalcıoğlu, Tuba Nur Tahtakesen, Hasan Önal, Banu Küçükemre-Aydın   +8 more
doaj   +2 more sources

Megaloblastic anemia - A clinical spectrum and a hematological profile: The day-to-day public health problem

Medical Journal of Dr. D.Y. Patil University, 2016
Aims and Objectives: To know the various parameters and diagnostic approach of megaloblastic anemia. To know the age incidence and sex ratio. Materials and Methods: A hospital-based retrospective and prospective study was done for a period of 1-year ...
S Srikanth
doaj   +2 more sources

Comparative Assessment of Vitamin-B12, Folic Acid and Homocysteine Levels in Relation to p53 Expression in Megaloblastic Anemia. [PDF]

PLoS ONE, 2016
Megaloblastic anemia (MBA), also known as macrocytic anemia, is a type of anemia characterized by decreased number of RBCs as well as the presence of unusually large, abnormal and poorly developed erythrocytes (megaloblasts), which fail to enter blood ...
Manish K Yadav, Nandini M Manoli, SubbaRao V Madhunapantula   +2 more
doaj   +2 more sources

A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia

Cellular Physiology and Biochemistry, 2018
Background/Aims: Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder resulting from mutations in SLC19A2, and is mainly characterized by megaloblastic anemia, diabetes, and progressive sensorineural hearing loss ...
Xiaoying Xian, Lin Liao, Wei Shu, Hongtao Li, Yuanyuan Qin, Jie Yan, Jianming Luo, Fa-Quan Lin   +7 more
doaj   +2 more sources

Iron deficiency anemia and megaloblastic anemia in obese patients

Romanian Journal of Internal Medicine, 2017
Background. The association between obesity and different types of anemia remained uncertain. The present study aimed to assess the relation between obesity parameters and the occurrence of iron deficiency anemia and also megaloblastic anemia among ...
Arshad Mahmoud, Jaberian Sara, Pazouki Abdolreza, Riazi Sajedeh, Rangraz Maryam Aghababa, Mokhber Somayyeh   +5 more
doaj   +2 more sources

Arrhythmia in thiamine responsive megaloblastic anemia syndrome

The Turkish Journal of Pediatrics, 2018
Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare, autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness.
Mustafa Argun, Ali Baykan, Nihal Hatipoğlu, Leyla Akın, Yavuz Şahin, Nazmi Narin, Selim Kurtoğlu   +6 more
doaj   +2 more sources

An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment

Italian Journal of Pediatrics, 2023
Background Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular complications, and nonautoimmune diabetes.
Francesca di Candia, V. Di Iorio, N. Tinto, Riccardo Bonfanti, Claudio Iovino, F. Rosanio, Ludovica Fedi, Fernanda Iafusco, Francesca Arrigoni, R. Malesci, F. Simonelli, A. Rigamonti, Adriana Franzese, E. Mozzillo   +13 more
semanticscholar   +1 more source

Mechanism of megaloblastic anemia combined with hemolysis

Bioengineered, 2021
Megaloblastic anemia (MA) patients often exhibit hemolysis, but it is not clear whether there are other hemolytic mechanisms in addition to intramedullary hemolysis.
Qiong Wu, Junru Liu, Xiaoxuan Xu, B. Huang, D. Zheng, Juan Li   +5 more
semanticscholar   +1 more source

Severe megaloblastic anemia: Vitamin deficiency and other causes

Cleveland Clinic journal of medicine, 2020
Megaloblastic anemia causes macrocytic anemia from ineffective red blood cell production and intramedullary hemolysis. The most common causes are folate (vitamin B9) deficiency and cobalamin (vitamin B12) deficiency. Megaloblastic anemia can be diagnosed
Daniel S. Socha, Sherwin I. DeSouza, Aron Flagg, M. Sekeres, H. J. Rogers   +4 more
semanticscholar   +1 more source

Thiamine-responsive megaloblastic anemia syndrome

Definitions, 2020
هديكچ همدقم : يت هب هدنهد خساپ كيتسلابولاگم يمنآ مردنس رد نيما DIDMOAD اي Wolfram يم ثرا هب بولغم لاموزوتا تروص هب دسر . يب تبايد اب كيتسلابورديس يمنآ و كيتسلابولاگم يمنآ مردنس نيا رد يـهارمه يسـح يركو ييانيب بصع يفورتآ ،نيريش تبايد ،هزم دراد .

semanticscholar   +1 more source