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.

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 Biochemical, Cellular, and Proteomic Characterization of Hereditary Spherocytosis Among Tunisians

2021 ◽  
Vol 55 (1) ◽  
pp. 117-129
Keyword(s):  
Membrane Protein ◽  
Hemolytic Anemia ◽  
Erythrocyte Membrane ◽  
Hereditary Spherocytosis ◽  
Osmotic Fragility ◽  
High Specificity ◽  
Protein Deficiency ◽  
Screening Tests ◽  
Tunisian Population ◽  
Tunisian Patients

Background/Aims: Hereditary Spherocytosis (HS) is the most common erythrocyte membrane disorder causing hemolytic anemia. The wide heterogeneity of both clinical and laboratory manifestations of HS contributes to difficulties associated with the diagnosis of this disorder. Although massive data previously reported worldwide, there is yet no data on HS among the Tunisian population. Here we aim to characterize HS in Tunisian patients at biochemical and cellular levels, identify the membrane protein deficiency, and compare the accuracy of the diagnostic tests to identify the most appropriate assay for HS diagnosis. Methods: We investigated 81 patients with hemolytic anemia and 167 normal controls. The exploration of HS based on clinical and family history, physical examination, and the results of laboratory tests: blood smear, osmotic fragility test (OFT), cryohemolysis test (CT), pink test (PT), eosine-5’-maleimide (EMA) test, and erythrocyte membrane protein electrophoresis. Results: We identified 21 patients with HS, classified as severe (6/21;28.5%), moderate (10/21;47.6%), and mild (5/21;23.8%). The most prevalent protein deficiency was the band 3 protein detected in ten Tunisian HS patients. The EMA test showed a high specificity (97.5%) and sensitivity (94.7%) for HS diagnosis compared to the other screening tests. Interestingly, fourteen among sixteen patients presenting with homozygous sickle cells HbSS showed an increase of EMA fluorescence intensity compared to other anemic patients. Conclusion: Our study highlights the efficiency of the EMA dye for the detection of HS whatever the nature of the involved protein deficiency. We report for the first time, the most prevalent protein deficiency among Tunisians with HS. Moreover, we found that the combination of the EMA-binding test with PT or incubated OFT improves the diagnosis sensitivity while maintaining a good specificity.

A Caution in Association of ABO Blood Group with COVID-19

2020 ◽  
Keyword(s):  
Gene Cluster ◽  
Clinical Outcomes ◽  
Blood Group ◽  
Association Analysis ◽  
Blood Type ◽  
Genome Wide Association ◽  
Chromosome 3 ◽  
Abo Blood Group ◽  
Genome Wide Association Analysis ◽  
Genome Wide

A comment on Zhao J, Yang Y, Huang H, Li D, Gu D, Lu X, et al. Association of ABO blood group and Covid19 susceptability. medRxiv [PREPRINT]. 2020; https://doi.org/10.1101/2020.03.11.20031096. Zeng X, Fan H, Lu D, Huang F, Meng X, Li Z, et al. Association between ABO blood group and clinical outcomes of Covid19. medRxiv[PREPRINT].2020; https://doi.org/10.1101/2020.04.15.20063107. Zietz M, Tatonetti N. Testing the association between blood type and COVID-19 infection, intubation, and death medRxiv [PREPRINT]. 2020; https://doi.org/10.1101/2020.04.08.20058073. Ellinghaus D, Degenhardt F, Bujanda L, al. e. The ABO blood group and a chromosome 3 gene cluster associate with SRAS-CoV2 respitarory failure in an Italy-Spain genome-wide association analysis. medRxiv. 2020; https://doi.org/10.1101/2020.05.31.20114991.

SISTEM PAKAR MENU MAKANAN SEHAT BAGI PENDERITA KOLESTEROL DENGAN METODE FORWARD CHAINING

2017 ◽  
Vol 3 (2) ◽  
pp. 72
Author(s):  
Gusnita Darmawati
Keyword(s):  
Expert System ◽  
Cholesterol Level ◽  
Blood Group ◽  
Healthy Food ◽  
Healthy Diet ◽  
Blood Type ◽  
Forward Chaining ◽  
Cholesterol Levels ◽  
Microsoft Office ◽  
Visual Basic 6.0

<p>Penelitian ini membangun suatu sistem pakar untuk menentukan menu makanan sehat berdasarkan golongan darah dan tingkat kadar kolesterol pasien dengan metode Forward Chaining. Tujuan untuk membantu orang awam dalam menentukan menu makanan sehat untuk pasien kolesterol. Sistem ini menganalisa masalah penentuan menu makanan sehat berdasarkan golongan darah dan tingkat kadar kolesterol pasien. Hasil yang diperoleh dari sitem pakar ini adalah berupa informasi makanan sehat yang akan dikonsumsi oleh pasien kolesterol dengan jenis golongan darah dan tingkat kadar kolesterol yang berbeda. Analisa dilakukan dengan cara mengetahui jenis golongan darah dan tingkat kadar kolesterol pasien yang ditampilkan oleh program sistem pakar ini, rancangan sistem ini menggunakan inference forward chaining, dengan implementasi sistem menggunakan sistem database Microsoft Office Access dan bahasa pemrograman Visual Basic 6.0. Dari rancangan aplikasi sistem pakar yang dibuat, maka orang awam yang memderita kolesterol dapat menentukan menu makanan sehat untuk di konsumsi berdasarkan golongan darah dan tingkat kadar kolesterol dengan menjalankan aplikasi sistem pakar.</p><p><em><br /></em></p><p><em><em>This study builds an expert system to determine the healthy food menu based on blood type and cholesterol levels of patients with Forward Chaining method. The goal is to help the layman in determining a healthy diet for cholesterol patients. This system analyzes the problem of determining healthy food menu based on blood group and patient cholesterol level. The results obtained from this expert system is in the form of healthy food information that will be consumed by cholesterol patients with the type of blood group and different cholesterol levels. From the design of expert system applications created, the layman who memderita cholesterol can determine the healthy diet to be consumed by blood type and cholesterol level by running an expert system application.<br /> <br /> </em></em></p>

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.

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