Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive syndrome characterized by early-onset anemia, diabetes, and hearing loss caused by mutations in the SLC19A2 gene. We studied the genetic cause and clinical features of this condition in patients from the Persian population. A clinical and molecular investigation was performed in four patients from three families and their...

Vitamin B12 deficiency anemia often leads to very different clinical findings, such as fatigue, dyspnea, loss of appetite, etc. The following case has been diagnosed with both vitamin B12 deficiency and autoimmune hemolytic anemia that have been presented with seriously hemolysis and pancytopenia. 35-year-old male patient who was Syria refugees and consulted with us due anemia and etiology of p...

More than 50 years ago, Victor Herbert first described the concept that defective nucleoprotein synthesis, attributable to various causes, results in the development of megaloblastic anemia.1 Megaloblastic anemia is characterized by the presence of a hypercellular marrow with large, abnormal hematopoietic progenitor cells with a characteristic finely stippled, lacy nuclear chromatin pattern. Th...

By R. J. CALVERT, E. HUnwoilTil AND A. L. MACBEAN I HE OCCASIONAL DEVELOPMENT of megaloblastic anemia during the administration for months or years of certain anticonvubsant drumgs ( phenytom sodium and/or primidone, with or withoumt phenobarbital ) has been reviewed by Gydell#{176} and Newman and Sumner.11 Ouir report concerns an epileptic patient who presented as a gynecologic emergency with ...

Two sisters with a previously unreported megaloblastic anemia unassociated with a deficiency of either folic acid or vitamin B12 are described. Deficiencies of these vitamins were ruled out by standard studies. All other previously reported forms of megaloblastic anemia not secondary to a vitamin deficiency, such as orotic aciduria, were also excluded by appropriate studies. Optimal hemoglobin ...

Aim: To determine the frequency of non malignant hematological causes of pancytopenia. Bone marrow examination of 148 cases of suspected hematological disorders was carried out in a DHQ KDA Hospital, Kohat from Jan. 2011to Dec. 2013. Results: Among the non malignant hematological disorders, megaloblastic anemia was the most common disorder i.e., (18.2%) followed by aplastic anemia (8.8%), ITP (...

Deficiency of vitamin B12 and/or folic acid as a cause of pyrexia, though known, is rarely reported in literature. We aimed to report a case in a 51 year old woman, who presented with fever and pancytopenia and was diagnosed to have megaloblastic anemia secondary to vitamin B12 and folate deficiency. The pyrexia subsided following the intramuscular injection of vitamin B12 and oral folic acid a...