Hereditary Spherocytosis / 임상소아혈액종양

Hereditary spherocytosis is a hemolytic anemia caused by erythrocyte membrane deficiencies that lead to membrane destabilization and vesiculation. Abnormal spherocytes are trapped and destroyed in the spleen. Mutations in several genes, SPTA1, SPTB, ANK1, SLCA1 and EPB42 cause alpha-spectrin, beta-spectrin, ankyrin, band 3 or protein 4.2 protein deficiencies, respectively. The clinical severity ranged from asymptomatic to severe hemolytic anemia requiring erythrocyte transfusion. Common complications are cholelithiasis, hemolytic episodes and aplastic crises. Till now, splenectomy is considered as only curative method in this genetic disorder. However, in the future, molecular analysis will make elucidate the genotype-phenotype interactions and can innovate to modify treatment strategies.

Autoimmune Hemolytic Anemia after Aplastic Crisis due to Parvovirus B19 Infection in a Patient with Hereditary Spherocytosis

Hereditary spherocytosis (HS) is a genetic disorder characterized by the production and destruction of spherocytes due to a deficiency of red cell membrane cytoskeletal proteins, resulting in the clinical presentation of chronic hemolytic anemia. This disease can be accompanied by an aplastic crisis due to parvovirus B19 infection. Parvovirus B19 infection causes diseases such as erythema infectiosum and arthritis, and can also trigger various autoimmune diseases, including autoimmune hemolytic anemia (AIHA). Here, we report a rare case of AIHA developing 3 months after an aplastic crisis due to parvovirus B19 infection in an 11-year-old boy with HS and provide the relevant literature review.

Autoimmune Hemolytic Anemia after Aplastic Crisis due to Parvovirus B19 Infection in a Patient with Hereditary Spherocytosis

Hereditary spherocytosis (HS) is a genetic disorder characterized by the production and destruction of spherocytes due to a deficiency of red cell membrane cytoskeletal proteins, resulting in the clinical presentation of chronic hemolytic anemia. This disease can be accompanied by an aplastic crisis due to parvovirus B19 infection. Parvovirus B19 infection causes diseases such as erythema infectiosum and arthritis, and can also trigger various autoimmune diseases, including autoimmune hemolytic anemia (AIHA). Here, we report a rare case of AIHA developing 3 months after an aplastic crisis due to parvovirus B19 infection in an 11-year-old boy with HS and provide the relevant literature review.

Hereditary Spherocytosis / 임상소아혈액종양

Hereditary spherocytosis is a hemolytic anemia caused by erythrocyte membrane deficiencies that lead to membrane destabilization and vesiculation. Abnormal spherocytes are trapped and destroyed in the spleen. Mutations in several genes, SPTA1, SPTB, ANK1, SLCA1 and EPB42 cause alpha-spectrin, beta-spectrin, ankyrin, band 3 or protein 4.2 protein deficiencies, respectively. The clinical severity ranged from asymptomatic to severe hemolytic anemia requiring erythrocyte transfusion. Common complications are cholelithiasis, hemolytic episodes and aplastic crises. Till now, splenectomy is considered as only curative method in this genetic disorder. However, in the future, molecular analysis will make elucidate the genotype-phenotype interactions and can innovate to modify treatment strategies.

TTP-HUS Associated with Sunitinib / Journal of the Korean Cancer Association, 대한암학회지

Thrombotic thrombocytopenic purpura-hemolytic uremic syndrome (TTP-HUS) is a rare condition that is severe and may be fatal. Adverse reactions to drugs increasingly are reported as probable causes of TTP-HUS. Many chemotherapeutic agents have also been implicated in causing TTP-HUS. We reported a woman with metastatic renal cell carcinoma who presented with TTP- HUS associated with sunitinib. She had gross hematuria and generalized edema. The hemoglobin concentration was 8.9 g/dl and the platelet count was 46,000/mm3. Her reticulocyte count was increased to 4.1% and the peripheral blood smear revealed red blood cell fragmentation and spherocytes. The patient completely recovered after discontinuing the use of sunitinib and undergoing plasmapheresis. Because of the increasing use of sunitinib in the treatment of cancer patients, oncologists should be aware of the possibility of TTP-HUS related to sunitinib, as early recognition and prompt therapeutic intervention can be beneficial.

The Effect of Cryoprotectants on the Survival Rate of Human Frozen Thawed Erythrocytes / 대한수혈학회지

BACKGROUND: This study was carried out to determine the effect of the kinds and concentration of cryoprotectants and freezing temperature on the survival rate of frozen erythrocytes. METHODS: Erythrocytes mixed with three different concentrations of amylopectin, k-carrageenan, dextran and hydroxyethylstarch as cryoprotectants were frozen at -10, -30, -50 and -196degrees, respectively, and thawed at 35degrees. The survival rate of frozen erythrocytes was determined by hemoglobin concentration of supernatant of thawed erythrocytes. Morphological changes were observed by scanning electron microscopy. RESULTS: Frozen erythrocytes with amylopectin or k-carrageenan showed relatively low survival rate (<40%). In case of erythrocytes with dextran, the survival rate of erythrocytes with 30% dextran showed significantly increased survival rate compared with 20% or 25% dextran (p<0.05). The survival rates of erythrocytes with 30% dextran and freezing temperature of -10degrees, -50degrees and -196degrees showed 80.44%, 73.61% and 88.84%, respectively. Frozen erythrocytes with hydroxyethylstarch showed significantly high survival rate with freezing temperature of -196degrees (hydroxyethylstarch conc. 20%: survival rate 66.26%, 25%: 64.51%, 30%: 86.22%) compared with other freezing temperature. Most of frozen erythrocytes with amylopectin of k-carrageenan were changed to spherocytes by freezing process. The change to echinocytes of erythrocytes with dextran was decreased according to the increasing concentration of dextran. The change to stomatocytes of erythrocytes with hydroxyethylstarch was decreased according to the increasing concentration of dextran. CONCLUSION: It was found that the kinds and concetration of cryoprotectants and freezing temperature affected the survival rate and morphological change of erythrocytes. Dextran or hydroxyethylstarch could increase the survival rate of frozen erythrocytes over 80% by protection of erythrocytes from the physical, chemical stress during freezing process.

Usefulness of cryohemolysis test in the diagnosis of hereditary spherocytosis

The clinical suspicion of hereditary spherocytosis (HS) must be confirmed at the clinical laboratory. The osotic fragility test (OFT) and the autohemolysis test (AHT) are the worlwide accepted assays to establish a definitive diagnosis of HS; however, they have some disadvantages. We describe herein our experience with the cryohemolysis test (CHT) as a tool to confirm the HS diagnosis. We included four groups of subjects, namely, patients with clinical HS, patients with mechanical heart valve prosthesis, malignant hematological diseases and healthy blood donors. CHT was carried out in all the groups, while OFT and AHT only in the HS patients and healthy individuals. OFT and AHT were performed according to previously described techniques. CHT was performed using red blood cells incubated in a hypertonic solution, preheated for 10 min and then tranferred to an ice bath for an additional 10 min. The resulting cryohemolysis was determined mesuring the free hemoglobin in the sample. There were no differences among the groups in terms of general characteristics. All HS suspicious patients had a positive OFT and AHT. CHT was positive in all patients from the HS group but in none of the subjects from the control groups (p<0.001). We found that CHT is a faster and easier-to-perform assay compared with OFT and AHT. Moreover, using CHT, the zone between normal and abnormal results is wider than OFT or AHT. We propose 0.7 to 11 percent hemolysis as reference values for CHT

A Case of Congenital Dyserythropoietic Anemia, Type II

Congenital dyserythropoietic anemia Type II (herditary erythroblatic multinuclearity with positive acidified serum test; HEMPAS) is characterized by binuclearity, multinuclearity, pluripolar mitoses, karyorrhexis of normoblasts, and the presence of abnormal antigens on the red cells. We experienced a case of HEMPAS in a 2 month old girl patient who had an intermittent fever, abdominal distention with palpable liver & spleen, and generalized jaundice. The blood analysis revealed anemia, and thrombocytopenia. Peripheral blood smear showed an averge of 6 mature normoblast per 100 leukocyte count. The red cells showed moderate anisocytosis, poikilocytosis, irregularly crenated, contracted cells and occasional spherocytes. The leukocytes showed relative lymphocytosis, and there were occasional villous lymphocytes. The marrow smear showed abnormality in erythroid series. About ten percent of the erythroblasts showed 2~7 nuclei or lobulated nuclei. The mitotic forms of the erythroid precursors were also increased in frequency. The M:E ratio was 1:3.2. Blood culture on this patient showed a pure growth of Coxiella burnetti. Medical treatment with Doxycycline and Rifampin was performed. After treatment, she became afebrile showing improved general condition with decreased size of liver & spleen. In spite of clinical improvement, she died suddenly 3 weeks after initial treatment.

Splenectomy in Hereditary Spherocytosis in Childhood / 영남의대학술지

Among the erythrocyte membrane defects, hereditary spherocytosis is the most common. The erythrocyte membrane defect results from a deficiency of spectrin, the most important structural protein in red cell. Hereditary spherocytosis often presents with hemolytic anemia, jaundice, moderate splenomegaly. Diagnosis is established by the presence of spherocytes in the peripheral blood, reticulocytosis, an increased osmotic fragility, and a negative Coombs test. In children, splenectomy is usually performed after age 6 years but can be done at a younger age if warranted by the severity of the anemia and the need for frequent transfusions. In the period December 1987 to Agust 1993, 9 patients with hereditrary spherocytosis underwent splenectomy and the following results were obtained. 1. Nine patients were comprised of five males and four females. 2. Five patients(55.6%) had been admitted to our hospital during age 6-10 years. 3. Four of the nine patients had autosomal dominant inheritance with variable expression. The other five patients had no known inheritance. 4. The diagnosis of the spherocytosis was based on the increased osmotic fragility and increased autohemolysis of the erythrocytes, as well as on the appearance of spherocytes in the peripheral blood smear. 5. In all cases splenectomy was performed. Two patients had concomitant gall stones and choledocholithiasis, respectively. One patient with concomitant gall stones underwent simultaneous cholecystectomy and splenectomy. The other patients associated with choledocholithiasis underwent splenectomy, cholecystectomy, choledocholithotomy, and T-tube drainage. 6. Complete hematologic recovery was obtained by the splenectomy in all cases. 7. Postoperative complication was not occurred.

Sodium and calcium transport in spherocytic red blood cells

No abstract available.

Esférocitos na doença hemolítica por incompatibilidade ABO

33 recém-nascidos de termo com incompatibilidade ABO foram estudados para verificar a validade da contagem de esferócitos no diangóstico da Doença Hemolítica ABO (DH-ABO). A contagem objetiva dos esferócitos através de técnica utilizando um fixador de microscopia eletrónica mostrou diferença significativa entre o grupo com icterícia (média de esferócitos = 11%) e o grupo sem icterícia (média = 4%). O percentual de esferócitos se correlacionou significativamente como o tempo em horas do início da icterícia. Pelos resultados o autor sugere a contagem de esferócitos como método auxiliar no diagnóstico precoce da DH-ABO