The application of eosin maleimide-binding test in the diagnosis of hereditary spherocytosis among undiagnosed cases of chronic hemolytic anemia in children

2014 ◽  
Vol 39 (3) ◽  
pp. 109 ◽  
Author(s):  
SarahM Nawar ◽  
WessamM El Gendy ◽  
AmalM Ghanem ◽  
HodaM Hassab ◽  
IreneM Lewis
Keyword(s):  
Hemolytic Anemia ◽  
Hereditary Spherocytosis ◽  
Chronic Hemolytic Anemia

scholarly journals Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis

2022 ◽  
Vol 9 (1) ◽  
Author(s):  
Keiko Shimojima Yamamoto ◽  
Taiju Utshigisawa ◽  
Hiromi Ogura ◽  
Takako Aoki ◽  
Takahiro Kawakami ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
Hereditary Spherocytosis ◽  
Genetic Diagnosis ◽  
Genomic Analysis ◽  
Japanese Patients ◽  
Asian Countries ◽  
Target Capture ◽  
Detailed Family History ◽  
Target Capture Sequencing ◽  
Chronic Hemolytic Anemia

AbstractHereditary spherocytosis is the most frequent cause of hereditary hemolytic anemia and is classified into five subtypes (SPH1-5) according to OMIM. Because the clinical and laboratory features of patients with SPH1-5 are variable, it is difficult to classify these patients into the five subtypes based only on these features. We performed target capture sequencing in 51 patients with hemolytic anemia associated with/without morphological abnormalities in red blood cells. Thirteen variants were identified in five hereditary spherocytosis-related genes (six in ANK1 [SPH1]; four in SPTB [SPH2]; and one in each of SPTA1 [SPH3], SLC4A1 [SPH4], and EPB42 [SPH5]). Among these variants, seven were novel. The distribution pattern of the variants was different from that reported previously in Japan but similar to those reported in other Asian countries. Comprehensive genomic analysis would be useful and recommended, especially for patients without a detailed family history and those receiving frequent blood transfusions due to chronic hemolytic anemia.

scholarly journals Atypical Familial Hemolytic Anemia

Blood ◽  
1956 ◽  
Vol 11 (4) ◽  
pp. 324-337 ◽  
Author(s):  
R. K. SMILEY ◽  
H. DEMPSEY ◽  
P. VILLENEUVE ◽  
J. S. CAMPBELL ◽  
BARBARA BEST
Keyword(s):  
Hemolytic Anemia ◽  
Hereditary Spherocytosis ◽  
Red Cells ◽  
Red Cell ◽  
French Canadian ◽  
Blood Group A ◽  
Group A ◽  
Red Cell Survival ◽  
Morphologic Abnormality ◽  
Chronic Hemolytic Anemia

Abstract 1. The genetic, clinical and hematologic features of an atypical chronic hemolytic anemia in two siblings of a French Canadian family have been described. 2. The anemia is normocytic, normochromic and not associated with any characteristic morphologic abnormality of the red cells. 3. Slight increases in osmotic and incubated mechanical fragility, as well as a more definite increase in aumtohemolysis were found which could not be demonstrated after splenectomy. 4. The survival time of normal red cells was shortened before splenectomy in one patient. Normal red cell survival was demonstrated in both patients after splenectomy. 5. The features which differentiate this hemolytic anemia from hereditary spherocytosis are discussed. 6. French or French Canadian ancestry has been noted in some of the reported patients most similar to our own. 7. The association of this type of hemolytic anemia with blood group A has been confirmed in our patients. 8. Splenectomy decreased the severity of the hemolytic process in both patients. This benefit may have resulted from removal of an extracorpuscuar hemolytic mechanism.

scholarly journals Hematological Observations on the Anemia Associated with Blood Type Rhnull

Blood ◽  
1970 ◽  
Vol 36 (3) ◽  
pp. 310-320 ◽  
Author(s):  
PHILLIP STURGEON
Keyword(s):  
Blood Group ◽  
Hemolytic Anemia ◽  
Erythrocyte Membrane ◽  
Hereditary Spherocytosis ◽  
Membrane Lipids ◽  
Blood Type ◽  
Normal Allele ◽  
Osmotic Equilibrium ◽  
Chronic Hemolytic Anemia

Abstract The purpose of this report is to direct attention of hematologists to a mild chronic hemolytic anemia, of unexplained etiology, characterized by the remarkable absence of all Rh-Hr factors. There are also defects in the Ss, U blood group determinants. The anemia has most of the routine hematological characteristics of mild stomatocytosis and/or hereditary spherocytosis. Like hereditary spherocytosis, it shows no abnormalities of intraerythrocytic enzymes nor of membrane lipids. Unlike hereditary spherocytosis, however, its inheritance is recessive. The proposed basis for this hemolytic anemia is homozygosity for a gene whose normal allele produces components of the erythrocyte membrane which function in the maintenance of intracellular osmotic equilibrium and which serves as substrate for the action of both the products of the Rh-Hr genes and of the genes of the MNSs, U and, possibly, of the Fy systems.

Henoch-Schönlein Purpura and Human Parvovirus Infection

PEDIATRICS ◽  
1986 ◽  
Vol 78 (1) ◽  
pp. 183-184
Author(s):  
J. J. LEFRÈRE ◽  
A. M. COUROUCÉ ◽  
J. P. SOULIER ◽  
M. P. CORDIER ◽  
M. C. GUESNE GIRAULT ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Hemolytic Anemia ◽  
Joint Pain ◽  
Past History ◽  
Henoch Schonlein Purpura ◽  
Erythema Infectiosum ◽  
Aplastic Crisis ◽  
Fifth Disease ◽  
Schonlein Purpura ◽  
Chronic Hemolytic Anemia

To the Editor.— Human parvovirus is already known to be responsible for aplastic crisis in chronic hemolytic anemia,1 for erythema infectiosum or fifth disease,2 and for arthropathies,3,4 and it has recently been isolated from the serum of patients with vascular purpura.5 We report the case of Henoch-Schonlein purpura associated with human parvovirus infection. H. T., a 6-year-old girl, without any significant past history, was admitted on March 8, 1985, for joint pain and swelling (wrists, knees, ankles) associated with intense abdominal pain.

Detection of Human Parvovirus B19 Infection in Children with Chronic Haemolytic Anaemia in Benha University Hospitals

2021 ◽  
Vol 30 (2) ◽  
pp. 51-58
Author(s):  
Amal M. Matta ◽  
Elsayed M. Abd-Elghany ◽  
Abeer A. Aboelazm ◽  
Osama Abo. Zaki, ◽  
Doaa Abd. Shaker
Keyword(s):  
Hemolytic Anemia ◽  
Parvovirus B19 ◽  
Control Group ◽  
P Value ◽  
Healthy Children ◽  
Igg Antibodies ◽  
University Hospitals ◽  
History Of ◽  
Chronic Hemolytic Anemia ◽  
Apparently Healthy

Background: Due to the tropism of human parvovirus B19 to erythroid progenitor cells, infection in patients with an underlying hemolytic disorder such as thalassemia, hereditary spherocytosis, sickle cell disease and Glucose-6-phosphate dehydrogenase deficiency leads to suppression of erythrocyte formation, referred to as transient aplasia crisis (TAC), which may be life-threatening. Objectives: Detection of parvovirus B19 DNA and its IgG antibodies in the serum of children with chronic hemolytic anemia and in apparently healthy children in Benha University Hospitals. Methodology: The study was conducted on 80 children. Forty of them with chronic hemolytic anemia, they were subdivided into 2 groups, Group (1a) included 20 patients without history of aplastic crisis, Group (Ib) included 20 patients with a history of aplastic crisis and 40 age and sex-matched apparently healthy children representing control (Group II). All patients were subjected to full history taking, clinical examination and laboratory investigations. Parvovirus B19 IgG was measured using anti-parvovirus B19 ELISA kits (SUNRED), and parvovirus B19 DNA was detected by using nestedpolymerase chain reaction. Results: The seroprevalence of parvovirus B19 IgG was significantly higher (P value =0.016) in Group Ia (50%) (10 out of 20) and Group Ib (45%) (9 out of 20) than the control group (Group II) (17.5%) (7 out of 40). There was a significant positive correlation between anti-parvovirus B19 IgG and age of all patients, frequency of blood transfusion. The prevalence of parvovirus B19 DNA was 10% (2 out of 20) in group Ia and 30% (6 out of 20) in group Ib and no viral DNA was detected in the controls (P value=0.001). Although 42.3% (11 out of 26) of children with β thalassemia major had a detectable level of antiparvovirus B19 virus IgG antibodies, only (23.1%) (6 out of 26) of them had B19 DNA. Anti-parvovirus B19 IgG antibodies were detected in 4 children out of 5 children of sickle cell anemia (80%) but the the prevalence of Parvovirus B19 DNA was 20% among them. Conclusion: Measures to keep away from iatrogenic and nosocomial infection transmission should be implemented including screening of donated blood for parvovirus B19 especially blood given to patients with blood disorders. Recommendation: Data from this study support the need for introduction of an approved vaccine that mainly protects children with chronic hemolytic anemia against that infection.

The role of soluble transferrin receptor in iron overload in children with chronic hemolytic anemia

2013 ◽  
Vol 26 (2) ◽  
pp. 132
Author(s):  
RedaI Rakha ◽  
SamarM.K. El-Din Fathallah ◽  
FathiaM El-Nemr ◽  
FaridaH El-Rashidi ◽  
SehamM Ragab
Keyword(s):  
Iron Overload ◽  
Hemolytic Anemia ◽  
Transferrin Receptor ◽  
Soluble Transferrin Receptor ◽  
Chronic Hemolytic Anemia

Thrombin antithrombin complex assessment in patients with chronic hemolytic anemia as a marker for the activity of coagulation

2018 ◽  
Vol 43 (1) ◽  
pp. 10
Author(s):  
YasminN El-Sakhawy ◽  
IbrahimY Abdel-Messih ◽  
NevineG Andrawes ◽  
NesmaA Safwat ◽  
YasminH Ibrahim
Keyword(s):  
Hemolytic Anemia ◽  
Chronic Hemolytic Anemia

Compound heterozygosity for hemoglobin C and Korle-Bu: moderate microcytic hemolytic anemia and acceleration of crystal formation [corrected] [published erratum appears in Blood 1994 May 15;83(10):3105]

Blood ◽  
1993 ◽  
Vol 82 (6) ◽  
pp. 1907-1912 ◽  
Author(s):  
RL Nagel ◽  
MJ Lin ◽  
HE Witkowska ◽  
ME Fabry ◽  
M Bestak ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
Compound Heterozygote ◽  
Crystal Formation ◽  
Compound Heterozygosity ◽  
Hemoglobin C ◽  
Tetragonal Crystals ◽  
Sharp Edges ◽  
Compound Heterozygotes ◽  
Chronic Hemolytic Anemia

Abstract We report here that compound heterozygosity for hemoglobin Korle-Bu (HbKB) and HbC (beta 6 Glu-->Lys) is associated with moderate chronic hemolytic anemia with microcytosis. To understand the pathogenesis of this syndrome, we have studied the effect of Hb Korle-Bu (KB = beta 73 Asp-->Asn) on the crystallization of HbC. We have previously established that fetal Hb (HbF) inhibits the crystallization of HbC. In contrast, HbS accelerates crystallization affecting the pathogenesis of SC disease. We now report on in vitro crystallization of mixtures of HbKB, HbC, and various amounts of HbF and the native hemolysate of a child who is a compound heterozygote for HbKB and HbC. At 6 months of age, the propositus' hemolysate contained 55% HbKB, 39% HbC, and 6% HbF. Crystal formed within 2 minutes compared with 30 minutes for the mixture of 40% HbC:60% HbS and with 180 minutes for 40% HbC:60% HbA. The morphology of the crystals formed was cubic, in contrast with the tetragonal crystals observed in CC and SC disease. Early crystals did not exhibit “sharp edges” until 45 minutes. Purified HbKB formed aggregates but not crystals after 24 hours. Isopycnic gradients showed that the KB/C compound heterozygotes have red blood cell (RBC) densities intermediate between the AC and CC phenotype and similar to SC disease. The surface residue beta 73, known to participate in areas of interaction of the deoxy HbS polymer, can now be assigned to areas of contact in HbC containing crystals. The hemolysis observed in the HbKB/C compound heterozygote is likely to be secondary to the acceleration of Hb crystallization. The microcytosis and increased RBC density is clearly the consequence of the presence of HbC, but the basis of the increased RBC pathology compared with AC trait, despite the low proportion of HbC (35% to 40%), remains to be elucidated.

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