BACKGROUND Congenital sideroblastic anemia(CSA)is a rare and heterogeneous group of genetic disorders.Conventional treatment include pyridoxine(vitamin B6)and allogeneic hematopoietic stem cell transplantation(allo-HS...BACKGROUND Congenital sideroblastic anemia(CSA)is a rare and heterogeneous group of genetic disorders.Conventional treatment include pyridoxine(vitamin B6)and allogeneic hematopoietic stem cell transplantation(allo-HSCT),and can alleviate anemia in the majority of cases.Nevertheless,some CSA cases remain unresponsive to pyridoxine or are unable to undergo allo-HSCT.Novel management approaches is necessary to be developed.To explore the response of luspatercept in treating congenital sideroblastic anemia.CASE SUMMARY We share our experience in luspatercept in a 4-year-old male patient with CSA.Luspatercept was administered subcutaneously at doses of 1.0 mg/kg/dose to 1.25 mg/kg/dose every 3 wk,three consecutive doses,evaluating the hematological response.Luspatercept leading to a significant improvement in the patient's anemia.The median hemoglobin during the overall treatment with three doses of luspatercept was 90(75-101)g/L,the median absolute reticulocyte count was 0.0593(0.0277-0.1030)×10^(12)/L,the median serum ferritin was 304.3(234.4-399)ng/mL,and the median lifespan of mature red blood cells was 80(57-92)days.Notably,no adverse reactions,such as headaches,dizziness,vomiting,joint pain,or back pain,were observed during the treatment period.CONCLUSION We believe that luspatercept might emerge as a viable therapeutic option for the maintenance treatment of CSA or as a bridging treatment option before hematopoietic stem cell transplantation.展开更多
The congenital dyserythropoietic anemias comprise a group of rare hereditary disorders of erythropoiesis, characterized by ineffective erythropoiesis as the predominant mechanism of anemia and by characteristic morpho...The congenital dyserythropoietic anemias comprise a group of rare hereditary disorders of erythropoiesis, characterized by ineffective erythropoiesis as the predominant mechanism of anemia and by characteristic morphological aberrations of the majority of erythroblasts in the bone marrow. Congenital dyserythropoietic anemia type II is the most frequent type. All types of congenital dyserythropoietic anemias distinctly share a high incidence of iron loading. Iron accumulation occurs even in untransfused patients and can result in heart failure and liver cirrhosis. We have reported about a patient who presented with liver cirrhosis and intractable ascites caused by congenital dyserythropoietic anemia type II. Her clinical course was further complicated by the development of autoimmune hemolytic anemia. Splenectomy was eventually performed which achieved complete resolution of ascites, increase of hemoglobin concentration and abrogation of transfusion requirements.展开更多
BACKGROUND Congenital dyserythropoietic anemia type 1(CDA1)is an autosomal recessive disorder of ineffective erythropoiesis,resulting in increased iron storage.CDA1 is usually diagnosed in children and adolescents but...BACKGROUND Congenital dyserythropoietic anemia type 1(CDA1)is an autosomal recessive disorder of ineffective erythropoiesis,resulting in increased iron storage.CDA1 is usually diagnosed in children and adolescents but can rarely present in the neonatal period with severe anemia at birth.There are no prior reports of neonatal liver histologic findings of CDA1.We report a case of CDA1 in a newborn presenting with severe anemia,cholestasis and liver failure,where liver biopsy helped confirm the diagnosis.CASE SUMMARY A term infant,born via emergency Cesarean section,presented with cholestasis,hepatosplenomegaly,multiorgan failure and severe anemia at birth.A prior pregnancy was significant for fetal demise at 35 wk without autopsy or known etiology for the fetal demise.Parents are both healthy and there is no history of consanguinity.On further evaluation,the patient was found to have severe ferritin elevation and pulmonary hypertension.An extensive infectious and metabolic work-up was negative.Salivary gland biopsy was negative for iron deposition.At 2 wk of age,a liver biopsy showed findings consistent with CDA1.A genome rapid sequencing panel revealed novel variants in the CDAN1 gene.The patient’s liver dysfunction,cholestasis and organomegaly resolved,however she remains transfusion-dependent.CONCLUSION We report liver pathology findings of CDA1 with a novel genetic mutation for the first time in a newborn.展开更多
Peripheral cisternae and double membranes(PCDMs)in erythroid cells are a landmark of typeⅡcongenital dyserythropoietic anemia(CDA).To gain further insights into the mechanism of dyserythropoiesis,erythroblasts and er...Peripheral cisternae and double membranes(PCDMs)in erythroid cells are a landmark of typeⅡcongenital dyserythropoietic anemia(CDA).To gain further insights into the mechanism of dyserythropoiesis,erythroblasts and erythrocytes in bone marrow were studied in 22 Chinese patients with CDAⅡby transmission electron microscopy.The study demonstrated an increase in all patients in erythroblasts with PCDMs with development from pro-erythroblast to red blood cells.PCDMs often connected with cisternae of endoplasmic reticulum(ER)and the perinuclear space,and were accompanied by karyopyknosis,karyolysis and disruption in polychromatic and orthochromatic erythroblasts.The results suggest that PCDMs are transformed from ER during erythropoiesis and participate in the dissolution and deletion of late erythroid cells in patients with CDAⅡ.展开更多
AIM: To clarify the incidence of congenital hemolytic anemias (CHA) in young cholelithiasis patients and to determine a possible screening test based on the results. METHODS: Young cholelithiasis patients (< 35 yea...AIM: To clarify the incidence of congenital hemolytic anemias (CHA) in young cholelithiasis patients and to determine a possible screening test based on the results. METHODS: Young cholelithiasis patients (< 35 years) were invited to our outpatient clinic. Participants were asked for comorbidities and family history. The number of gallstones were recorded. Blood samples were obtained to perform a complete blood count, standard Wright-Giemsa staining, reticulocyte count, hemoglobin (Hb) electrophoresis, serum lactate dehydrogenase and bilirubin levels, and lipid profile. RESULTS: Of 3226 cholecystectomy patients, 199 were under 35 years, and 190 with no diagnosis of CHA were invited to take part in the study. Fifty three patients consented to the study. The median age was 29 years (range, 17-35 years), 5 were male and 48 were female. Twelve patients (22.6%) were diagnosed as thalassemia trait and/or ?ron-deficiency anemia. Hblevels were significantly lower (P = 0.046), and mean corpuscular volume (MCV) and hematocrit levels were slightly lower (P = 0.072 and 0.082, respectively) than normal. There was also a significantly lower number of gallstones with the diagnosis (P = 0.007). CONCLUSION: In endemic regions, for young cholelithiasis patients (age under 35) with 2-5 gallstones, the clinician/surgeon should pay attention to MCV and Hb levels as indicative of CHA.展开更多
To the Editor:Congenital hemolytic anemia (CHA) can be caused by the defect of any component in red blood cell (RBC),including hemoglobinopathies,membrane and cytoskeleton defects,and metabolic enzymopathies etc.And i...To the Editor:Congenital hemolytic anemia (CHA) can be caused by the defect of any component in red blood cell (RBC),including hemoglobinopathies,membrane and cytoskeleton defects,and metabolic enzymopathies etc.And it is characterized by early present normocytic/macrocytic anemia,reticulocytosis,and elevated unconju-gated bilirubin.展开更多
57 cases with G6PD deficiency and 62 with normal G6PD activities as controls in Chonghua County, Guangdong Province were examined in the respects of visual acuity, color vision, corneal sensitivity, lens, vitreous and...57 cases with G6PD deficiency and 62 with normal G6PD activities as controls in Chonghua County, Guangdong Province were examined in the respects of visual acuity, color vision, corneal sensitivity, lens, vitreous and fundus.The results showed that the incidences of congenital lenticular opacities and congenital color blindness in G6PD deficiency group were higher than those in the controls. However,there were no findings such as pale conjunctiva, sallow sclera, pallor papillae and macular edema, which could be seen frequently in patients with favism. The hemoglobin values of all the cases were within normal range, which indicated that the subjects with G6PD deficiency usually didn’t manifest hemolysis but only had a hereditary susceptibility, and the ocular findings in favism might result from hemolytic anemia, tissue anoxia and unknown toxic substances from vicia faba.展开更多
基金National Natural Science Foundation of China,No.81890992.
文摘BACKGROUND Congenital sideroblastic anemia(CSA)is a rare and heterogeneous group of genetic disorders.Conventional treatment include pyridoxine(vitamin B6)and allogeneic hematopoietic stem cell transplantation(allo-HSCT),and can alleviate anemia in the majority of cases.Nevertheless,some CSA cases remain unresponsive to pyridoxine or are unable to undergo allo-HSCT.Novel management approaches is necessary to be developed.To explore the response of luspatercept in treating congenital sideroblastic anemia.CASE SUMMARY We share our experience in luspatercept in a 4-year-old male patient with CSA.Luspatercept was administered subcutaneously at doses of 1.0 mg/kg/dose to 1.25 mg/kg/dose every 3 wk,three consecutive doses,evaluating the hematological response.Luspatercept leading to a significant improvement in the patient's anemia.The median hemoglobin during the overall treatment with three doses of luspatercept was 90(75-101)g/L,the median absolute reticulocyte count was 0.0593(0.0277-0.1030)×10^(12)/L,the median serum ferritin was 304.3(234.4-399)ng/mL,and the median lifespan of mature red blood cells was 80(57-92)days.Notably,no adverse reactions,such as headaches,dizziness,vomiting,joint pain,or back pain,were observed during the treatment period.CONCLUSION We believe that luspatercept might emerge as a viable therapeutic option for the maintenance treatment of CSA or as a bridging treatment option before hematopoietic stem cell transplantation.
文摘The congenital dyserythropoietic anemias comprise a group of rare hereditary disorders of erythropoiesis, characterized by ineffective erythropoiesis as the predominant mechanism of anemia and by characteristic morphological aberrations of the majority of erythroblasts in the bone marrow. Congenital dyserythropoietic anemia type II is the most frequent type. All types of congenital dyserythropoietic anemias distinctly share a high incidence of iron loading. Iron accumulation occurs even in untransfused patients and can result in heart failure and liver cirrhosis. We have reported about a patient who presented with liver cirrhosis and intractable ascites caused by congenital dyserythropoietic anemia type II. Her clinical course was further complicated by the development of autoimmune hemolytic anemia. Splenectomy was eventually performed which achieved complete resolution of ascites, increase of hemoglobin concentration and abrogation of transfusion requirements.
文摘BACKGROUND Congenital dyserythropoietic anemia type 1(CDA1)is an autosomal recessive disorder of ineffective erythropoiesis,resulting in increased iron storage.CDA1 is usually diagnosed in children and adolescents but can rarely present in the neonatal period with severe anemia at birth.There are no prior reports of neonatal liver histologic findings of CDA1.We report a case of CDA1 in a newborn presenting with severe anemia,cholestasis and liver failure,where liver biopsy helped confirm the diagnosis.CASE SUMMARY A term infant,born via emergency Cesarean section,presented with cholestasis,hepatosplenomegaly,multiorgan failure and severe anemia at birth.A prior pregnancy was significant for fetal demise at 35 wk without autopsy or known etiology for the fetal demise.Parents are both healthy and there is no history of consanguinity.On further evaluation,the patient was found to have severe ferritin elevation and pulmonary hypertension.An extensive infectious and metabolic work-up was negative.Salivary gland biopsy was negative for iron deposition.At 2 wk of age,a liver biopsy showed findings consistent with CDA1.A genome rapid sequencing panel revealed novel variants in the CDAN1 gene.The patient’s liver dysfunction,cholestasis and organomegaly resolved,however she remains transfusion-dependent.CONCLUSION We report liver pathology findings of CDA1 with a novel genetic mutation for the first time in a newborn.
文摘Peripheral cisternae and double membranes(PCDMs)in erythroid cells are a landmark of typeⅡcongenital dyserythropoietic anemia(CDA).To gain further insights into the mechanism of dyserythropoiesis,erythroblasts and erythrocytes in bone marrow were studied in 22 Chinese patients with CDAⅡby transmission electron microscopy.The study demonstrated an increase in all patients in erythroblasts with PCDMs with development from pro-erythroblast to red blood cells.PCDMs often connected with cisternae of endoplasmic reticulum(ER)and the perinuclear space,and were accompanied by karyopyknosis,karyolysis and disruption in polychromatic and orthochromatic erythroblasts.The results suggest that PCDMs are transformed from ER during erythropoiesis and participate in the dissolution and deletion of late erythroid cells in patients with CDAⅡ.
文摘AIM: To clarify the incidence of congenital hemolytic anemias (CHA) in young cholelithiasis patients and to determine a possible screening test based on the results. METHODS: Young cholelithiasis patients (< 35 years) were invited to our outpatient clinic. Participants were asked for comorbidities and family history. The number of gallstones were recorded. Blood samples were obtained to perform a complete blood count, standard Wright-Giemsa staining, reticulocyte count, hemoglobin (Hb) electrophoresis, serum lactate dehydrogenase and bilirubin levels, and lipid profile. RESULTS: Of 3226 cholecystectomy patients, 199 were under 35 years, and 190 with no diagnosis of CHA were invited to take part in the study. Fifty three patients consented to the study. The median age was 29 years (range, 17-35 years), 5 were male and 48 were female. Twelve patients (22.6%) were diagnosed as thalassemia trait and/or ?ron-deficiency anemia. Hblevels were significantly lower (P = 0.046), and mean corpuscular volume (MCV) and hematocrit levels were slightly lower (P = 0.072 and 0.082, respectively) than normal. There was also a significantly lower number of gallstones with the diagnosis (P = 0.007). CONCLUSION: In endemic regions, for young cholelithiasis patients (age under 35) with 2-5 gallstones, the clinician/surgeon should pay attention to MCV and Hb levels as indicative of CHA.
文摘To the Editor:Congenital hemolytic anemia (CHA) can be caused by the defect of any component in red blood cell (RBC),including hemoglobinopathies,membrane and cytoskeleton defects,and metabolic enzymopathies etc.And it is characterized by early present normocytic/macrocytic anemia,reticulocytosis,and elevated unconju-gated bilirubin.
文摘57 cases with G6PD deficiency and 62 with normal G6PD activities as controls in Chonghua County, Guangdong Province were examined in the respects of visual acuity, color vision, corneal sensitivity, lens, vitreous and fundus.The results showed that the incidences of congenital lenticular opacities and congenital color blindness in G6PD deficiency group were higher than those in the controls. However,there were no findings such as pale conjunctiva, sallow sclera, pallor papillae and macular edema, which could be seen frequently in patients with favism. The hemoglobin values of all the cases were within normal range, which indicated that the subjects with G6PD deficiency usually didn’t manifest hemolysis but only had a hereditary susceptibility, and the ocular findings in favism might result from hemolytic anemia, tissue anoxia and unknown toxic substances from vicia faba.
