先天性红细胞生成异常性贫血Ⅰ型致新生儿持续性肺动脉高压

先天性红细胞生成异常性贫血 (ＣＤＡ)是一种罕见的遗传性骨髓病变 ,ＣＤＡⅠ型电镜检查的特有改变为骨髓原红细胞核呈海绵状伴广泛核膜破坏。本病常表现为中度贫血 ,严重者可有胎儿水肿。新生儿持续性 ,肺动脉高压 (ＰＰＨＮ) (与肺血管抵抗抑制肺血流有关 ) ,动脉导管和卵圆孔未闭致的向左分流 ,表现低氧血症 ,紫绀和酸中毒。现报道同一家族的 3例ＣＤＡＩ型患儿 ,由于新生儿期严重贫血导致ＰＰＮＨ。病例　例 1 ,男 ,父母亲健康 ,有血缘关系 ,孕期无并发症 ,产前有呼吸窘迫史。患儿为足月产 ,体重适于胎龄儿 ,因紫绀及呼吸表浅生后阿氏评…     

Acute parvovirus B19 infection mimicking congenital dyserythropoietic anemia

Infection with human parvovirus B19 is known to cause transient erythroid aplasia in children with hemolytic anemia but has also been associated with bone marrow necrosis and morphologic changes suggesting myelodysplasia. The authors describe a previously healthy child who presented with severe hypoplastic anemia. Initial bone marrow aspiration revealed erythroid hyperplasia, dyserythropoiesis, and multinucleated erythroid cells with nuclear budding and bridging, consistent with the diagnosis of congenital dyserythropoietic anemia. Serologic testing documented acute parvovirus infection, and on recovery the correct diagnosis of unsuspected congenital spherocytosis was established. This case expands the spectrum of hematologic disease associated with acute parvovirus infection.     

Congenital dyserythropoietic anaemia type I in two brothers presenting with neonatal jaundice.

Two brothers with congenital dyserythropoietic anaemia type I are described. Both presented with neonatal jaundice, required transfusion for anaemia at 8 weeks of age, and have subsequently remained well with only mild anaemia. Peripheral blood findings and bone marrow morphology on light and electron microscopy are discussed.     

Interferon therapy in congenital dyserythropoietic anemia type I/II

Congenital dyserythropoietic anemia (CDA) is a rare disorder, characterized by the association of ineffective erythropoiesis, variable degree of anemia, and erythroblastic morphological abnormalities. alpha-Interferon has been reported to be effective in type I CDA, but efficacy in other types of CDA is uncertain. Encouraged by the reports, we evaluated the efficacy of alpha-interferon in 6 children with CDA. Diagnosis of CDA was established on the basis of clinical profile, distinct morphological findings on light microscopy, and the Ham's test, following the exclusion of the more common causes of hemolysis. Erythrocyte agglutinability and lysis to anti-i and anti-l sera, electron microscopy, and SDS-polyacrylamide gel electrophoresis were not performed, due to nonavailability. There were 3 cases, each, with type I and type II CDA. The mean age was 5.5 years (range: 6 months to 11.5 years). Five of the 6 patients were transfusion dependent. alpha-Interferon was administered subcutaneously for a mean duration of 19 weeks (range: 12-30). The dose ranged from 2.6 to 6.5 million IU/m2/dose. The frequency of injections varied from thrice weekly to alternate days. No favorable effect on hemoglobin, reticulocyte count, or transfusion frequency was observed. alpha-Interferon therapy was found to be ineffective in all the patients. These observations question the use of interferon in CDA until further studies in a larger number of patients establish its efficacy.     

Successful management of congenital dyserythropoietic anemia type I with interferon alpha in a child

Congenital dyserythropoietic anemia type I (CDA I) is a rare inherited hematological disorder characterized by macrocytic anemia and ineffective erythropoiesis with pathognomonic morphological features that include internuclear chromatin bridges, spongy heterochromatin, and invagination of the cytoplasm into the nuclear area in erythroid precursors. Treatment of anemia with the usual hematinics is without effect and 15% of patients need chronic transfusions. Successful treatment of CDA I with interferon-alpha was noted. The authors report a patient with CDA I who had required transfusions every 2-3 months since the neonatal period and responded to recombinant interferon-alpha therapy with the findings of electron microscopic investigations.     

Sleep disruption and objective sleepiness in children with beta-thalassemia and congenital dyserythropoietic anemia

BACKGROUND: Sleep fragmentation and periodic leg movement syndrome (PLMS) have been reported in adults with iron deficiency anemia. Little is known about sleep function and daytime sleepiness in children with chronic anemia such as beta-thalassemia or congenital dyserythropoietic anemia type 1 (CDA-1). OBJECTIVES: To investigate if children and adolescents who have beta-thalassemia (major or intermedia) or CDA-1 experience sleep fragmentation and objective daytime sleepiness and also to investigate if children and adolescents with beta-thalassemia have obstructive sleep apnea. METHODS: Ten patients (7 males and 3 females) with beta-thalassemia (mean [SD] age, 10.4 [7.3] years), 10 patients (7 males and 3 females) with CDA-1 (mean [SD] age, 13.5 [5.1] years), and 13 healthy volunteer control children(7 males and 6 females) (mean [SD] age, 10 [4] years) underwent nocturnal polysomnographic studies. A multiple sleep latency test was performed for 6 patients who had beta-thalassemia and 8 patients who had CDA-1. RESULTS: Both patient groups, that is, those who had beta-thalassemia and those who had CDA-1, had multiple arousals during sleep (mean [SD], 27.8 [11.4] events per hour and 23.8 [11.8] events per hour, respectively) compared with the control subjects (12.1 [6.6] events per hour) (P<.002). Thirty-eight percent (10.6 events per hour) of the arousals in patients with beta-thalassemia and 25% (6.0 events per hour) of the arousals in patients with CDA-1 were induced by periodic limb movements during sleep. In the control group, most (98%) arousals were spontaneous and unrelated to any definable event. The multiple sleep latency test average was 7.8 minutes for patients with beta-thalassemia (n = 6) and 10.7 minutes for patients with CDA-1 (n = 8). Five patients with beta-thalassemia and 4 patients with CDA-1 underwent a second polysomnographic study on the next night to confirm reproducibility. There was no significant change in the total number or index of arousals and no difference in the severity of the periodic limb movements during sleep compared with the results of the first polysomnographic study. CONCLUSION: Children and adolescents with beta-thalassemia or CDA-1 have evidence of impaired sleep function that is partially due to periodic limb movements during sleep and arousals that result in objective diurnal sleepiness.     

Proton pump inhibitors use suppresses iron absorption in congenital dyserythropoietic anemia

Congenital dyserythropoietic anemia type I (CDA I) is associated, as other anemic noninflammatory states, with ineffective erythropoiesis and increased iron absorption, which may lead to complication of iron overload. The latter complication requires iron-chelating therapy, which may be associated with adverse effects and toxicity. Gastric acid production is known to be an important factor that facilitates non-heme iron absorption. The purpose of this study was to examine whether treatment with proton pump inhibitors (PPIs) can decrease iron absorption in patients with CDA I. Eight CDA I patients (4 boys) aged 12–18 years with mild iron overload (not yet requiring chelating therapy) received 20 mg/d omeprazole for 6 months. Blood samples were obtained for ferritin, C-reactive protein, hemoglobin, calcium, and magnesium at baseline, at the end of months intervention and 6 months after its cessation. The mean ferritin level decreased from 585 ± 180 ng/ml at baseline to 522 ± 172 ng/ml at the end of 6-month treatment and 660 ± 256 ng/ml 6 months after cessation of omeprazole treatment (p = 0.009). Omeprazole treatment caused a nonsignificant reduction in the mean iron level (iron 159 ± 42, 136 ± 54,167 ± 34 µg/dl, p = 0.302). However, mean hemoglobin level was mildly but significantly reduced (Hg 10.0 ± 0.8, 9.55 ± 1.0, 10.4 ± 10.7 g/dl, p = 0.002). No adverse effects were reported. Our investigation suggests that administration of PPI to patients with CDA I may reduce iron absorption and may lower iron overload and the need for chelation therapy.     

Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II

CDA are a group of inherited, rare diseases that are characterized by dyserythropoiesis and ineffective erythropoiesis associated with transfusion dependency in approximately 10% of cases. For these latter patients, the only curative treatment is HSCT. There are very limited data on HSCT experience in this rare disease. Herein, we report a five‐yr six‐month‐old girl with compound heterozygous mutations in SEC23B gene, who was diagnosed to have CDA type II and underwent successful HSCT from her matched sibling donor.