Coinheritance of sickle cell anemia and hereditary spherocytosis

To date only three siblings with coinheritance of sickle cell anemia (SCA) and hereditary spherocytosis (HS) have been reported. We here describe a 17-year-old boy who experienced episodes of hemolysis and had a large spleen. The diagnosis of SCA was confirmed by hemoglobin electrophoresis (HbS 88.9%) and genetic analysis (homozygote HbSS mutation). The diagnosis of HS was established by an osmotic fragility test, performed twice. A splenectomy was performed, and following surgery the hemoglobin concentration was maintained between 9 and 11 g/dl without further transfusion requirements. This patient was the fourth reported case with co-existence of two different genetically transmitted hemolytic anemias.     

Total versus partial splenectomy in pediatric hereditary spherocytosis: A systematic review and meta‐analysis

To compare the clinical effectiveness of total splenectomy (TS) or partial splenectomy (PS) in pediatric hereditary spherocytosis, a systematic review and meta‐analysis was performed (PROSPERO registration CRD42015030056). There were 14 observational studies comparing pre‐ and postoperative hematologic parameters. Secondary outcomes include in‐hospital infections, surgical complications, symptomatic recurrence, and biliary disease. TS is more effective than PS to increase hemoglobin (3.6 g/dl vs. 2.2 g/dl) and reduce reticulocytes (12.5% vs. 6.5%) after 1 year; outcomes following PS are stable for at least 6 years. There were no cases of overwhelming postsplenectomy sepsis. A population‐based patient registry is needed for long‐term follow‐up.     

Compliance with immunizations in splenectomized individuals with hereditary spherocytosis

Overwhelming infection by encapsulated bacteria is a significant risk of splenectomy. Strict adherence to immunizations against encapsulated organisms is recommended. We performed a cross‐sectional study to determine immunization status after splenectomy in the hereditary spherocytosis (HS) population. As HS is most often autosomal dominant, we used a strategy of ascertaining older affected individuals by expanding pedigrees from patients in our pediatric hematology center. Only 26% of asplenic patients reported receiving all recommended post‐splenectomy vaccines. This study demonstrates that pediatric hematology clinics have a unique opportunity to provide or recommend catch‐up and booster vaccinations to splenectomized adult relatives of their patients. Pediatr Blood Cancer 2009;52:865–867. © 2009 Wiley‐Liss, Inc.     

Use of capillary blood to diagnose hereditary spherocytosis

We studied 31 children with hemolytic anemia, or with positive family history for hereditary spherocytosis (HS), to assess the reliability of capillary blood samples for the diagnosis. HS was diagnosed in 20 patients. Cryohemolysis (CH) was positive in 94% and eosin‐5′‐maleimide flow cytometry in 90% of them, whereas flow cytometric osmotic fragility was positive in 94%. Capillary blood sampling showed to be useful for the diagnosis. Simultaneous use of these three tests allows confirming diagnosis in 100% of patients. The use of very small blood volumes (300 µl) allows an earlier diagnosis in neonates and small infants. Pediatr Blood Cancer 2012; 59: 1299–1301. © 2012 Wiley Periodicals, Inc.     

Laboratory markers of thrombosis risk in children with hereditary spherocytosis

BACKGROUND: Recent data suggest that adults with hereditary spherocytosis (HS) may be protected from atherothrombosis before splenectomy but have increased risk of thrombosis following splenectomy. In order to aid in making informed decisions regarding splenectomy in children with HS, we conducted a retrospective study of several surrogate laboratory markers of thrombosis risk in children with HS. METHODS: A retrospective record review was performed on 246 children with HS. Platelet count and hemoglobin concentration were recorded prior to and following splenectomy in each patient. Serum cholesterol levels were collected from the record when available. RESULTS: Prior to splenectomy, hypocholesterolemia was common. Mean platelet counts in 31 evaluable patients pre- and post-splenectomy were 334 and 608 x 10(9)/L, respectively (P < 0.001). Twenty-nine patients (94%) exhibited persistent thrombocytosis following splenectomy. Hemoglobin values following splenectomy often rose to higher than age and gender-matched norms, with 30% of measurements greater than the 90th percentile and 17% greater than the 97th percentile. CONCLUSIONS: The findings of hypocholesterolemia before splenectomy and thrombocytosis and mild polycythemia afterwards support the hypothesis that patients with HS might be protected from thrombosis before splenectomy and/or more susceptible afterwards. Prospective studies of additional prothrombotic biomarkers and thrombotic events in HS patients are warranted.     

重组人促红细胞生成素对早产儿贫血和细胞免疫功能的影响

目的　观察重组人促红细胞生成素 (rHu Epo)对早产儿贫血的预防和细胞免疫功能的影响。 方法　将 6 0例早产儿随机分为治疗组和对照组各 30例 ,治疗组用rHu Epo 6 0 0IU/kg ,隔日一次× 6周 ,加常规治疗[速力菲 8mg/ (kg·d) ,VitC 0 .1Bid ;VitE 10mg ,qd],对照组仅用常规治疗。两组同时监测红细胞计数 (RBC)、血红蛋白 (Hb)、网织红细胞 (Ret) )、血清铁和细胞免疫功能的变化。结果　疗程结束后治疗组Ret 2 .0 7% ,对照组 0 .80 9% ,两组Ret相差 10个百分点左右。治疗组血清铁 13μmol/L ,对照组 2 2 .13μmol/L ,P<0 .0 1。治疗组贫血发生率 3.3% ,对照组 6 3.4% ,P <0 .0 1,两组贫血症状有明显差异。结论　rHu Epo能预防早产儿贫血     

Use of recombinant erythropoietin for the management of severe hemolytic disease of the newborn of a K0 phenotype mother

Very few people do not express any Kell antigens on their red blood cells (K0 phenotype). They can be immunized by transfusion or pregnancy and develop antibodies against Kell system antigens. These maternal antibodies can cause severe hemolytic disease of the fetus/newborn, as a result of the suppression of erythropoiesis and hemolysis. Multiple intrauterine transfusions in the management of severe hemolytic disease have been shown to cause erythropoietic suppression as well. Recombinant erythropoietin has been successfully used in the management of late anemia of infants with Rh hemolytic disease and in 1 case of KEL1 (Kell)-associated hemolytic disease. The authors present the case of severe hemolytic disease of a newborn due to KEL5 (Ku) isoimmunization of his K0 phenotype mother. Regular intrauterine transfusions were performed to manage the severe fetal anemia (Hb 3 g/dL). A male infant was born at the 36th week of gestation having normal hemoglobin (15.8 g/dL) and developed only mild hyperbilirubinemia. On the 15th day of life, the infant's hematocrit had fallen to 27.3%, with low reticulocyte count and low erythropoietin level. The infant was managed successfully with recombinant erythropoietin.     

不同剂量促红细胞生成素对新生大鼠高氧肺损伤血管保护作用的研究

目的　探讨不同剂量重组人促红细胞生成素(recombinant humanerythropoietin,rhEPO)作为血管生长样因子对新生大鼠高氧肺损伤的血管保护作用.方法 新生Sprague-Dawley大鼠60只,分为空气组、高氧组(持续吸入95％的高浓度氧)、高氧+大剂量rhEPO组(于高氧暴露前1h及暴露3d后,腹腔注射rhEPO5000 U/kg)及高氧+小剂量rhEPO组(时间点同前,腹腔注射rhEPO800 U/kg),每组15只.而空气组和高氧组分别于同一时间点腹腔注射等量生理盐水.高氧暴露6d时,观察各组大鼠存活率变化,免疫组织化学法检测肺组织血管内皮标志CD31及肺血管内皮细胞生长因子(Vascular endothelial growth factor,VEGF)表达的变化.结果 高氧暴露6d后,与高氧组相比,高氧+大剂量rhEPO组大鼠存活率显著提高[86.7％ (13/15) vs 60.0％(9/15)];肺组织CD31阳性面积比[(38.69±1.69)％ vs (33.57±4.12)％,P＜0.05]和VEGF的表达(124.4296±7.282 3 vs 114.205 9±8.345 7,P＜0.05)明显增高;而高氧+小剂量rhEPO组肺组织CD31阳性面积比[(36.34±1.89)％]及VEGF的表达(115.4296±6.7199)无明显改善,差异无统计学意义(P＞0.05).结论 大剂量rhEPO(5000 U/kg)可以促进肺血管的发育和修复,对新生鼠高氧肺损伤有血管保护作用,而800 U/kg rhEPO无明显的高氧肺损伤血管保护作用.     

Recombinant Human Erythropoietin (r-HuEPO) therapy in a newborn with hereditary spherocytosis]

The newborn with hereditary spherocytosis can develop severe anemia, requiring red blood cell transfusions. Therapy with r-HuEPO has been proposed to avoid transfusions. CASE REPORT: Hereditary spherocytosis was diagnosed in a newborn who had severe and early jaundice. He was treated with r-HuEPO, and did not require red blood cells transfusion. CONCLUSION: Recombinant erythropo?etin might be an interesting alternative to red blood cells transfusions during the neonatal period in newborns with hereditary spherocytosis.     

Hereditary spherocytosis diagnosed with the eosin‐5′‐maleimide binding test

We describe three cases of hereditary spherocytosis (HS) diagnosed using the eosin‐5′‐maleimide (EMA) binding test and discuss the relevance of the EMA binding test. In Japan, this test is not widely used because the prevalence of HS is low. This test is a valuable screening test for the diagnosis of HS.     

遗传性球形红细胞增多症合并G6PD 缺乏1 例报告

目的探讨遗传性球形红细胞增多症(HS)合并葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的临床表现、发病机制和诊断经验。方法回顾分析1例5岁HS合并G6PD缺乏症患儿的临床表现、实验室检查,并复习国内外相关文献。结果患儿,男,5岁。因面色苍白伴黄疸,疑似地中海贫血就诊。红细胞计数2.65×10~(12)/L,血红蛋白70.50g/L,平均红细胞体积78.61 fl,平均球形红细胞体积66.26 fl,网织红细胞18%;镜检红细胞大小不等,以小细胞为主,球形红细胞约占15%;G6PD活性1.38 NBT;SDS-PAGE电泳和Western-blot均显示患儿带3蛋白部分缺失;基因结果显示,带3蛋白SLC4A1基因,一个位于4号外显子点突变c.113AC,另一个位于6号内含子c.349+27CT(IVS 6 nt+27 CT),确诊HS合并G6PD缺乏症。讨论临床上同时患有HS和G6PD缺乏症十分罕见,双重红细胞缺陷影响溶血诊断。     

SLC4A1 复合杂合突变致遗传性球形红细胞增多症并远端肾小管酸中毒1 例报告并文献复习

目的分析SLC4A1复合杂合突变致遗传性球形红细胞增多症(HS)并远端肾小管酸中毒(dRTA)的临床表型与基因变异的关系。方法回顾分析1例确诊HS合并dRTA患儿的临床资料,以及患儿及父母外周血全外显子测序及Sanger验证结果。结果男性患儿,1岁7个月,主要临床表现为输血依赖性球形红细胞增多、代谢性酸中毒、低钾血症及生长发育迟缓。检测到患儿SLC4A1 基因2个已报道的错义变异c.2102GA p.(Gly701Asp),c.1988TC p.(Met663Thr),分别来源于父母。结论经基因检测确诊由SLC4A1复合杂合变异所致的遗传型HS合并dRTA,符合常染色体隐性遗传。     

Successful treatment of acute lymphoblastic leukemia with L-asparaginase-induced intracranial hemorrhage to activated recombinant factor VIIa in a child

L-Asparaginase, a major component of therapy in children with acute lymphoblastic leukemia, has been shown to induce coagulopathy by inhibiting synthesis of clot-forming and clot-inhibitory proteins. The authors report the successful use of recombinant factor VIIa in a 15-year-old girl with acute lymphoblastic leukemia who had L-asparaginase-induced intracranial hemorrhage. The present case is the first to demonstrate use of rFVIIa in L-asparaginase-induced intracranial hemorrhage in a child with acute lymphoblastic leukemia.