1.Megaloblastic anemia in myelofibrosis with myeloid metaplasia.
Bo Ra SON ; Chang Kyu LEE ; Hye Kyung KIM ; Kap No LEE
Korean Journal of Clinical Pathology 1991;11(3):605-608
No abstract available.
Anemia, Megaloblastic*
;
Megaloblasts*
;
Primary Myelofibrosis*
2.A case of cioclonal gammopathy in psoriatic patient with methotrexate treated megaloblastic anemia.
Jee Young AHN ; Yeon Sun KIM ; Hwi Jun KIM ; Dong Hwa SONG ; Seung Ho BAEK
Korean Journal of Hematology 1992;27(1):111-116
No abstract available.
Anemia, Megaloblastic*
;
Humans
;
Megaloblasts*
;
Methotrexate*
3.Sulfasalazine-induced Megaloblastic Anemia in Normal Serum Folate Level.
Jung Gon KIM ; Tae Kyung KIM ; Jeong Yeal AHN ; Hyo Jin CHOI ; Soo Mee BANG ; Han Joo BAEK
The Journal of the Korean Rheumatism Association 2005;12(3):231-234
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.
Adult
;
Anemia, Megaloblastic*
;
Female
;
Folic Acid*
;
Hematopoietic System
;
Hemolysis
;
Humans
;
Inflammatory Bowel Diseases
;
Megaloblasts*
;
Sulfasalazine
4.Two Cases of Megaloblastic Anemia Induced by Vitamin B12 Deficiency in Children.
Ji Yoon KIM ; Byoung Mok KIM ; Kun Soo LEE
Korean Journal of Pediatric Hematology-Oncology 2004;11(1):97-101
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.
Anemia, Megaloblastic*
;
Child*
;
DNA
;
Early Diagnosis
;
Failure to Thrive
;
Humans
;
Megaloblasts*
;
Vitamin B 12 Deficiency*
;
Vitamin B 12*
;
Vitamins*
5.Thiamine-responsive Megaloblastic Anemia Syndrome in a Mother and Five Daughters.
Hwi Kyu IM ; Jie Yeon LEE ; Suk Won PARK ; Hwang Min KIM ; Young UH ; Byung Il YEH
Korean Journal of Pediatric Hematology-Oncology 2003;10(1):91-98
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.
Anemia, Megaloblastic*
;
Deafness
;
Diabetes Mellitus
;
Folic Acid
;
Humans
;
Korea
;
Megaloblasts*
;
Membranes
;
Mothers*
;
Nuclear Family*
;
Thiamine
;
Vitamin B 12
6.Causes and Clinical Features of Vitamine B12 Deficiency Megaloblastic Anemia.
Hun Ho SONG ; Jung Hye KWON ; Jeong Han KIM ; Joo Young JEONG ; Hyo Jeong KIM ; Keun Seok LEE ; Dae Young JANG ; Jin Seok AHN ; Dong Hoon SHIN ; Sung Ha KANG ; Young Iee PARK
Korean Journal of Hematology 2004;39(4):243-248
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.
Anemia
;
Anemia, Megaloblastic*
;
Anemia, Pernicious
;
Ataxia
;
Diarrhea
;
Dyspnea
;
Follow-Up Studies
;
Gastrectomy
;
Hypesthesia
;
Iron
;
Korea
;
Megaloblasts*
;
Vitamin B 12
;
Vitamin B 12 Deficiency
;
Vitamins*
7.Assessment of the Diagnostic Utility of Methylmalonic Acid in Megaloblastic Anemia due to Vitamin B12 Deficiency.
Sun Young KONG ; Myung Hyun NAM ; Hee Yeon WOO ; Soo Yeon LEE ; Kyung A LEE ; Jong Won KIM ; Sun Hee KIM
The Korean Journal of Laboratory Medicine 2002;22(3):145-152
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.
Anemia, Aplastic
;
Anemia, Megaloblastic*
;
Bone Marrow
;
Chromatography
;
Consensus
;
Creatinine
;
Diagnosis
;
DNA
;
Erythrocyte Indices
;
Folic Acid
;
Gas Chromatography-Mass Spectrometry
;
Humans
;
Immunoassay
;
Luminescence
;
Megaloblasts*
;
Metabolic Networks and Pathways
;
Methylmalonic Acid*
;
Myelodysplastic Syndromes
;
Sensitivity and Specificity
;
Vitamin B 12 Deficiency*
;
Vitamin B 12*
;
Vitamins*
8.Two Cases of Erythroleukemic Blast Crisis in Chronic Myelogenous Leukemia.
Ja Young KIM ; Myung Shin KIM ; Ji Hyang LIM ; Kyung Ja HAN
Korean Journal of Clinical Pathology 2001;21(2):93-97
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.
Blast Crisis*
;
Bone Marrow
;
Bone Marrow Cells
;
Bone Marrow Transplantation
;
Chromosome Aberrations
;
Cytogenetics
;
Erythroblasts
;
Fever
;
Gastrointestinal Hemorrhage
;
Granulocyte Precursor Cells
;
Humans
;
Hydroxyurea
;
Hyperplasia
;
Interferons
;
Leukemia, Myelogenous, Chronic, BCR-ABL Positive*
;
Megaloblasts