Choe YH, Lee JE, Kim SK. Effect of Helicobacter pylori eradication on sideropenic refractory anaemia in adolescent girls with Helicobacter pylori infection. Acta Paediatr 2000; 89: 154-7. Stockholm. ISSN 0803-5253 We investigated the effect of Helicobacter pylori eradication on sideropenic refractory anaemia in adolescent girls with H. pylori-associated antral gastritis without evidence of haemorrhage or clinical symptoms other than sideropenic anaemia. We conducted an open therapeutic trial in 21 adolescent girls aged 15-17 y with sideropenic refractory anaemia, which was defined as irondeficiency anaemia refractory to oral iron therapy for 3 mo. All subjects underwent gastroduodenal endoscopy. Thirteen patients with confirmed H. pylori infection were given a 2-wk course of triple therapy and 6 wk of oral ferrous sulfate. We compared the mean levels of haemoglobin and serum ferritin among the "initial sample" (the time when the sampling was done before treatment with oral iron), "before eradication" (the time prior to triple therapy for eradication after subjects had been given oral iron for 3 mo) and "after eradication" (the time when the follow-up endoscopy was performed) data in 11 subjects in whom H. pylori infection was eradicated. Haemoglobin levels (g/dl) were 8.6 AE 1.9, 8.6 AE 1.4 and 11.3 AE 2.3, respectively. Serum ferritin levels (mg/l) were 4.6 AE 2.4, 4.2 AE 2.3 and 17.5 AE 6.7, respectively. After eradication of H. pylori, mean levels of haemoglobin (p = 0.0002) and serum ferritin (p = 0.0002) showed a prominent increase between "before eradication" and "after eradication". In conclusion, adolescent girls with sideropenic refractory anaemia should be evaluated for H. pylori infection. If H. pylori infection is coexistent, its eradication along with iron supplementation could correct the anaemia. & Adolescent girls, Helicobacter pylori, iron deficiency anaemia, sideropenic refractory anaemia YH Choe,

Summary Haemophilia A (HA) is an X‐linked recessive bleeding disorder caused by defects in the F8 gene encoding the coagulation factor VIII. Mutation analysis in HA is important to confirm the diagnosis, genotype‐phenotype correlations and for genetic counselling and family study. The aim of this study was to detect causative mutations of F8 in severe HA patients in Korea and to correlate the mutation type with the risk of inhibitor development. A total of 100 unrelated Korean patients with severe HA were enrolled for this study. The Nijeman modification of the Bethesda assay was used to determine the presence of inhibitor. Molecular analysis of F8 was performed using a combination of molecular techniques, including long‐distance polymerase chain reaction, direct sequencing and multiplex ligation‐dependent probe amplification (MLPA). We identified causative mutations in 98% of severe HA patients (98/100). Inv22 and Inv1 mutations were detected in 30 patients and one patient, respectively. A total of 59 unique mutations were identified in 69 non‐inversion patients, including 24 novel mutations. The overall prevalence of inhibitor was 26%. Inhibitor risk was highest in patients with large deletion mutations identified using MLPA (100%). Among those with point mutations, the prevalence of inhibitor was highest when the mutation occurred in the A3 and C2 domains (60% and 50%, respectively). The molecular diagnostic strategy involving multiplex PCR, sequencing and dosage analyses identified causative mutations in most cases of severe HA. The high inhibitor risk was associated with large deletion mutations and point mutations in A3 and C2 domains.