Sulfasalazine-induced Megaloblastic Anemia in Normal Serum Folate Level / 대한류마티스학회지

Sulfasalazine produces a varied spectrum of adverse reactions on the hematopoietic system. Sulfasalazine-induced megaloblastic anemia is very rare and a few cases have been reported in patients with inflammatory bowel disease. Most of them show a low serum folate level. The pathogenesis is known as folate deficiency by intestinal folate malabsorption, inhibition of folate enzyme, or hemolysis. We experienced a 43-year old female with Behcet's disease, who presented with megaloblastic anemia having normal serum folate level after treatement of sulfasalazine (2 g/day for 3 months). Megaloblastic anemia recovered after withdrawal of the drug only.

Causes and Clinical Features of Vitamine B12 Deficiency Megaloblastic Anemia / 대한혈액학회지

BACKGROUND: Vitamim B12 deficinecy is not a common disease and the causes and clinical findings were not clearly documented in Korea so far. Concerning that vitamin B12 deficiency caused by gastrectomy is not uncommon, we analysized the causes of vitamin B12 deficiency and clinical findings. METHODS: We reviewed the clinical records of cases diagnosed as vitamine B12 deficiency megaloblastic anemia in Hallym Medical Center from July, 1992 to Octorber, 2004. RESULTS: Forty five cases were included. Twenty five cases were performed gastrectomy and 8 cases had pernicious anemia, however the causes of 10 cases with vitamin B12 deficiency were not clear. The rate of the cases induced by gastrectomy were increased after 2001 compared with the rate before this point. Six cases were combined with iron deficient anemia. In five of the 6 cases who were combined with iron deficient anemia, the MCV and MCH were not increased. Forty three cases had anemia and anemia-associated symptoms such as dyspnea and weakness. Some of the cases complained diarrhea, numbness, or ataxia. CONCLUSION: We found that the gastrectomy was the dominant cause of vitamin B12 deficient megaloblastic anemia in this study. We suggest that vitamin B12 deficient megaloblastic anemia should be considered in follow-up of the cases of gastrectomy.

Two Cases of Megaloblastic Anemia Induced by Vitamin B12 Deficiency in Children / 대한소아혈액종양학회지

Megaloblastic anemia induced by Vitamin B12 deficiency is a disorder caused by impaired DNA synthesis. It has been previously thought to be rare in children, however, recent studies suggest that this condition is more common than previously recognized. Deficiency can lead to a wide spectrum of hematologic and neuropsychiatric disorders. Especially in children, it often presents with nonspecific manifestations, such as developmental delay, irritability, weakness, and failure to thrive. Early diagnosis and prompt treatment might resolve these complications, but permanent neurologic damage may have already occurred. We experienced two cases of Megaloblastic Anemia induced by Vitamin B12 deficiency and report them with a brief review of the literature.

RAEB-t in young adults--a rare entity.

Refractory anemia with excess blasts in transformation (RAEB-t) in young adults is a rare entity. RAEB-t presenting with megaloblastic erythropoiesis should be differentiated from nutritional B12 and folic acid deficiency and from acute erythroleukemia. We report two cases in the present article.

Thiamine-responsive Megaloblastic Anemia Syndrome in a Mother and Five Daughters / 대한소아혈액종양학회지

Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an early-onset autosomal recessive disorder characterized by megaloblastic anemia with ringed sideroblasts, diabetes mellitus and progressive sensorineural deafness, all of which respond in varying degrees to the administration of thiamine, in pharmacologic doses. TRMA syndrome has been reported in less than 30 families, but has never been reported in Korea. It has been demonstrated recently that TRMA is consistently associated with a defect in thiamine transport across cellular membranes and with impaired intracellular pyrophosphorylation. The TRMA syndrome gene, SCL19A2, locates on chromosome 1q23.2-23.3, and encodes a high-affinity thiamine transporter protein. We recently experienced 6 cases of thiamine-responsive megaloblastic anemia syndrome in a family, including a mother and five daughters. All the six cases revealed megaloblastic anemia refractory to vitamin B12 and folic acid therapy but responded to thiamine. We report the cases with a brief review of the literature.

Assessment of the Diagnostic Utility of Methylmalonic Acid in Megaloblastic Anemia due to Vitamin B12 Deficiency / 대한진단검사의학회지

BACKGROUND: Methylmalonic acid (MMA) is one of the metabolites of the DNA synthesis metabolic pathway wherein vitamin B12 acts as a coenzyme. Vitamin B12 deficiency leads to inhibition of methyl-malonyl CoA mutase, and sequential elevation of blood and urine concentrations of MMA. It has been known that the urine concentration of MMA is a more specific and sensitive marker than the hema-tologic indices and the serum concentration of vitamin B12 for the diagnosis of vitamin B12 deficiency. We investigated the sensitivity of urine concentration of MMA and the usefulness as a differential mark-er for myelodysplastic syndrome (MDS) and megaloblastic anemia (MA). METHODS: We identified 37 cases that were examined for both urine concentrations of MMA and bone marrow studies from January 1996 to December 2000. Serum concentrations of vitamin B12 and folate were measured by the chemiluminescence immunoassay using ACS:180 (Bayer Diag-nostics). Urine concentration of MMA was measured by isotope dilution gas chromatography-mass spectrometry (GC 8000-gas chromatography MD800). RESULTS: Of 36 patients, 12 patients were diagnosed with MA, 8 patients with MDS, 5 patients with aplastic anemia based on the bone marrow study. Increased urine concentration of MMA was observed in all the patients with MA, but none of the patients with MDS. Using a cut-off value of 5 mmol/mol creatinine urine concentration MMA, the sensitivity and specificity in diagnosis for MA were 100% and 80%. The correlation between the urine concentration of MMA and the serum con-centration of vitamin B12 was insignificant (r=-0.25, P=0.21). The highest correlation index with urine concentration of MMA was the red cell distribution width (r=0.74, P < 0.01). CONCLUSIONS: We concluded that the urine concentration of MMA was a sensitive marker for diagno-sis of MA caused by vitamin B12 deficiency and could be a useful test in the differentiation for MA from MDS. Although a consensus for a diagnostic value of the urine concentration of MMA would be nec-essary, we recommend using both the urine concentration of MMA and the serum vitamin B12 as prima-ry tests for diagnosis of MA caused by vitamin B12 deficiency.

Two Cases of Erythroleukemic Blast Crisis in Chronic Myelogenous Leukemia / 대한임상병리학회지

The erythroleukemic blast crisis in chronic myelogenous leukemia (CML) is rarely reported. We present two cases of erythroleukemic blast crisis of CML. In both cases, they had been treated with interferon and hydroxyurea prior to a blast crisis of CML. On blastic transformation, one patient underwent an acute clinical transformation marked with fever and hematochezia but the other showed no clinical deterioration. The blasts appeared in the peripheral blood. The bone marrow aspirates revealed megaloblastic erythroid hyperplasia (about 72%, 54% of all nucleated cells), increasing the number of myeloblasts (about 46%, 59% of all non-erythroid cells), and erythroblasts with a positive PAS stain. The cytogenetic studies revealed Philadelphia chromosomes with additional chromosomal abnormalities, t(3;21)(q26;q22) and the FISH studies revealed bcr-abl fusion signals in bone marrow cells. One case expired 8 months later despite of hydroxyuria therapy. The other case received allogeneic bone marrow transplantation (alloBMT) without complete remission but expired 34 weeks after alloBMT due to GVHD.

A case of cioclonal gammopathy in psoriatic patient with methotrexate treated megaloblastic anemia / 대한혈액학회지

No abstract available.

Megaloblastic anemia in myelofibrosis with myeloid metaplasia / 대한임상병리학회지

No abstract available.

Congenital dyserythropoietic anaemia.

A case of congenital dyserythropoietic anaemia presented with recurrent jaundice and painful splenomegaly. There was binuclearity, internuclear chromatin bridges, megaloblastic changes in erythrocyte precursors and positive acidified serum test with normal serum.