scholarly journals Further Studies on Hemoglobin C

Blood ◽  
1953 ◽  
Vol 8 (8) ◽  
pp. 724-734 ◽  
Author(s):  
JAMES V. NEEL ◽  
EUGENE KAPLAN ◽  
WOLF W. ZUELZER
Keyword(s):  
Sickle Cell ◽  
Additional Data ◽  
Hemoglobin C

Abstract Three families are described in which there occur one or more children with sickle cell-hemoglobin C disease. Additional data are presented concerning two previously described families.

scholarly journals Is Skeletal Muscle Dysfunction a Limiting Factor of Exercise Functional Capacity in Patients with Sickle Cell Disease?

2021 ◽  
Vol 10 (11) ◽  
pp. 2250
Author(s):  
Etienne Gouraud ◽  
Philippe Connes ◽  
Alexandra Gauthier-Vasserot ◽  
Camille Faes ◽  
Salima Merazga ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Sickle Cell Disease ◽  
Muscle Fatigue ◽  
Sickle Cell ◽  
Functional Capacity ◽  
Muscle Dysfunction ◽  
Electromyographic Activity ◽  
Cell Disease ◽  
Step Frequency ◽  
Hemoglobin C

Patients with sickle cell disease (SCD) have reduced functional capacity due to anemia and cardio–respiratory abnormalities. Recent studies also suggest the presence of muscle dysfunction. However, the interaction between exercise capacity and muscle function is currently unknown in SCD. The aim of this study was to explore how muscle dysfunction may explain the reduced functional capacity. Nineteen African healthy subjects (AA), and 24 sickle cell anemia (SS) and 18 sickle cell hemoglobin C (SC) patients were recruited. Maximal isometric torque (Tmax) was measured before and after a self-paced 6-min walk test (6-MWT). Electromyographic activity of the Vastus Lateralis was recorded. The 6-MWT distance was reduced in SS (p < 0.05) and SC (p < 0.01) patients compared to AA subjects. However, Tmax and root mean square value were not modified by the 6-MWT, showing no skeletal muscle fatigue in all groups. In a multiple linear regression model, genotype, step frequency and hematocrit were independent predictors of the 6-MWT distance in SCD patients. Our results suggest that the 6-MWT performance might be primarily explained by anemia and the self-paced step frequency in SCD patients attempting to limit metabolic cost and fatigue, which could explain the absence of muscle fatigue.

Diverse phenotypic expression of sickle cell hemoglobin C disease in an Indian family

2010 ◽  
Vol 90 (3) ◽  
pp. 357-358 ◽  
Author(s):  
Dilip K. Patel ◽  
Siris Patel ◽  
Ranjeet S. Mashon ◽  
Preetinanda M. Dash ◽  
Malay B. Mukherjee
Keyword(s):  
Sickle Cell ◽  
Phenotypic Expression ◽  
Indian Family ◽  
Hemoglobin C

HEMOGLOBIN C. REPORT OF THE HOMOZYGOUS CONDITION AND OF COMBINATIONS WITH NORMAL AND SICKLE CELL HEMOGLOBIN

PEDIATRICS ◽  
1955 ◽  
Vol 15 (2) ◽  
pp. 185-190
Author(s):  
James L. Morgan ◽  
Richard M. Bowles ◽  
Jerome S. Harris
Keyword(s):  
Sickle Cell ◽  
Clinical Picture ◽  
Definitive Diagnosis ◽  
Homozygous Condition ◽  
Hemoglobin C ◽  
Abnormal Hemoglobin

Two families showing abnormal hemoglobin types are described. One case represents the fifth reported instance homozygous C disease. The clinical picture is discussed, and the importance of electrophoresis in making a definitive diagnosis is stressed.

Developmental Pattern of Splenic Dysfunction in Sickle Cell Disorders

PEDIATRICS ◽  
1985 ◽  
Vol 76 (3) ◽  
pp. 392-397
Author(s):  
Howard A. Pearson ◽  
Diane Gallagher ◽  
Robert Chilcote ◽  
Edmund Sullivan ◽  
Judith Wilimas ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Bacterial Infections ◽  
Fetal Hemoglobin ◽  
Developmental Pattern ◽  
Cross Sectional ◽  
Serial Measurement ◽  
Hemoglobin C ◽  
Sickle Cell Disorders ◽  
Sectional Analysis

Splenic function in sickle hemoglobinopathy syndromes was assessed to determine the developmental pattern of splenic dysfunction. Nonvisualization of the spleen using technetium-99 metastable (99mTc) spleen scans correlated strongly with pocked (vesiculated) RBCs ≥3.5%. Cross-sectional analysis of pocked RBC data from 2,086 patients showed differences in the developmental pattern of splenic dysfunction between several disorders. In hemoglobin SS disease (sickle cell anemia) and hemoglobin Sβ° thalassemia, splenic dysfunction (≥3.5% pocked RBCs) often occurred in the first 6 to 12 months of life. In hemoglobin Sβ+ thalassemia, splenic dysfunction occurred less frequently and later. Splenic dysfunction in hemoglobin SC disease (sickle cell-hemoglobin C) was intermediate. The level of pocked RBCs was inversely associated with fetal hemoglobin (P &lt; .007) and directly associated with age (P ≤ .001). These patterns of splenic dysfunction reflect the known severity of hemolysis and intravascular sickling and are consistent with the epidemiology of severe bacterial meningitis and sepsis in these diseases. Serial measurement of pocked RBCs permits determination of the onset of splenic dysfunction and the time of increased susceptibility to severe bacterial infections.

Thrombotic Thrombocytopenic Purpura and Multiorgan System Failure in a Child With Sickle Cell-Hemoglobin C Disease

2009 ◽  
Vol 49 (10) ◽  
pp. 992-996 ◽  
Author(s):  
Venkata Sasidhar Majjiga ◽  
Asit K. Tripathy ◽  
Kusum Viswanathan ◽  
Mayank Shukla
Keyword(s):  
Thrombotic Thrombocytopenic Purpura ◽  
Sickle Cell ◽  
System Failure ◽  
Thrombocytopenic Purpura ◽  
Hemoglobin C

Life-threatening thrombotic thrombocytopenic purpura (TTP) in a patient with sickle cell-hemoglobin C disease

2003 ◽  
Vol 82 (11) ◽  
pp. 702-704 ◽  
Author(s):  
H. E. Lee ◽  
V. J. Marder ◽  
L. J. Logan ◽  
S. Friedman ◽  
B. J. Miller
Keyword(s):  
Thrombotic Thrombocytopenic Purpura ◽  
Sickle Cell ◽  
Thrombocytopenic Purpura ◽  
Hemoglobin C ◽  
Life Threatening

Poster 189 Sickle Cell Hemoglobin C Disease Presenting as Hip Pain and Urinary Retention: A Case Report

PM&R ◽  
2012 ◽  
Vol 4 ◽  
pp. S255-S255
Author(s):  
Jiaxin Tran ◽  
Eric L. Altschuler ◽  
Robert L. Johnson
Keyword(s):  
Case Report ◽  
Urinary Retention ◽  
Sickle Cell ◽  
Hip Pain ◽  
Hemoglobin C

scholarly journals Radioactive Sodium Chromate for the Study of Survival of Red Blood Cells

Blood ◽  
1954 ◽  
Vol 9 (12) ◽  
pp. 1155-1164 ◽  
Author(s):  
IRWIN M. WEINSTEIN ◽  
CARROLL L. SPURLING ◽  
HERMAN KLEIN ◽  
THOMAS F. NECHELES
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Sodium Chromate ◽  
Red Cell ◽  
Survival Times ◽  
Hemoglobin C ◽  
Cell Life ◽  
Erythrocyte Survival ◽  
Abnormal Hemoglobin ◽  
Radioactive Sodium

Abstract Cr51 erythrocyte survival times are reported in a group of patients with a variety of abnormal hemoglobin syndromes. Marked decreases in survival time are demonstrated in pure sickle cell anemia. Shortened survival times are reported in one case each of hemoglobin C disease and sickle cell-hemoglobin C disease with compensated hemolysis. Normal survival times are reported in sickle cell trait and hemoglobin C trait. Red cell life span as measured by the Cr51 technic agrees well with most published reports of survival times in these disorders in cases performed with the Ashby technic. The Cr51 method appears to be as useful in measuring the survival of erythrocytes containing abnormal hemoglobins as it has been shown to be in other hemolytic disorders as well as in normals. Its decided advantages are its simplicity, adaptability, and reliability.

Sickle cell trait and the risk of venous thromboembolism among blacks

Blood ◽  
2007 ◽  
Vol 110 (3) ◽  
pp. 908-912 ◽  
Author(s):  
Harland Austin ◽  
Nigel S. Key ◽  
Jane M. Benson ◽  
Cathy Lally ◽  
Nicole F. Dowling ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Odds Ratio ◽  
Sickle Cell Trait ◽  
Coagulation System ◽  
Cell Disease ◽  
Hemoglobin C ◽  
Increased Risk ◽  
S Allele

Abstract People with sickle cell disease have a chronically activated coagulation system and display hemostatic perturbations, but it is unknown whether they experience an increased risk of venous thromboembolism. We conducted a case–control study of venous thromboembolism that included 515 hospitalized black patients and 555 black controls obtained from medical clinics. All subjects were assayed for hemoglobin S and hemoglobin C genotypes. The prevalence of the S allele was 0.070 and 0.032 for case patients and controls, respectively (P < .001). The odds that a patient had sickle cell trait were approximately twice that of a control, indicating that the risk of venous thromboembolism is increased approximately 2-fold among blacks with sickle cell trait compared with those with the wild-type genotype (odds ratio = 1.8 with 95% confidence interval, 1.2-2.9). The odds ratio for pulmonary embolism and sickle cell trait was higher, 3.9 (2.2-6.9). The prevalence of sickle cell disease was also increased among case patients compared with controls. We conclude that sickle cell trait is a risk factor for venous thromboembolism and that the proportion of venous thromboembolism among blacks attributable to the mutation is approximately 7%.

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