Sickle Cell Trait: A Benign State?

2016 ◽  
Vol 136 (3) ◽  
pp. 147-151 ◽  
Author(s):  
Taiwo R. Kotila
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Dna Analysis ◽  
Sickle Cell Trait ◽  
Beta Thalassemia ◽  
Compound Heterozygous ◽  
Cell Disease ◽  
Benign Condition ◽  
Red Cell Indices ◽  
Heterozygous Form

Background: Sickle cell trait (SCT) is the heterozygous form of sickle cell disease and expectedly should be a benign state with no complications ascribed to it. There are numerous reports challenging its being a benign condition, though this is controversial. Methods and Results: A review of the results of the accompanying investigations done on some of the patients show that beta thalassemia may be responsible for many of the ascribed symptoms and complications. These patients may therefore have sickle cell beta thalassemia, a compound heterozygous form of sickle cell disease. Conclusion: It is important to screen for beta thalassemia using red cell indices and quantitation of the different hemoglobin fractions before attributing any symptoms to SCT. DNA analysis, though useful in ascertaining the presence of the sickle cell gene, is not sufficient. There is the need to exclude the presence of mutations for beta thalassemia, which often is geographical region-specific.

Status of Sickle Cell Disease Among Tharu Population In Banke District of Nepal.

2021 ◽  
Vol 11 (5) ◽  
Author(s):  
Gupta Umesh Prasad ◽  
Bhandari Amrit ◽  
Giri Dhruba ◽  
Adhikari Sushmita ◽  
Paudel Sangita ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Age Groups ◽  
Test Method ◽  
Beta Thalassemia ◽  
Compound Heterozygous ◽  
Cell Disease ◽  
Cross Sectional ◽  
Solubility Test

Sickle cell disease (SCD) is prevalent in malaria-endemic areas because the gene for sickle cell provides its carrier with resistance against malaria. In Nepal, malaria is prevalent in Terai, hence the susceptibility of SCD is high in this region. Being indigenous to the Terai, thousands of people in the Tharu communities of the Banke districting Nepal are believed to have suffered from sickle cell disease. The objective of this study was to find out the status of sickle cell disease among the Tharu population of Banke district, Nepal. A cross-sectional, experimental study was performed among systematically randomly selected 275 samples from 3 Village Development Committee (VDCs). All the samples were first screened for the presence of sickle hemoglobin using the sickle solubility test method in Bheri Zonal Hospital. Then all sickle solubility positive samples were further processed for alkaline hemoglobin electrophoresis by using Interlab GenioS electrophoresis instrument. Out of a total 275 samples, 33 (12.0%) samples were confirmed as sickle solubility test positive. Among which, sickle cell trait was the most common disorder found grossing to 81.8%, followed by homozygous sickle cell disease; (15.2 %). One case (3.0%) of compound heterozygous sickle beta-thalassemia was also found.The Males were found to be more affected than females with ratio of 1.4:1.1. The highest frequency of SCD was found to be in 11-20 age groups comprising about 36.4%. Dangaura Tharu (51.5%) was the most common ethnic group with this disorder. The findings of this study indicate SCD is prevalent among the Tharu population in Banke district of Province-5, Nepal

Selected Testing of Newborns for Sickle Cell Disease

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 879-880
Author(s):  
Kwaku Ohene-Frempong
Keyword(s):  
Sickle Cell Disease ◽  
Early Detection ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Globin Gene ◽  
Carrier State ◽  
Cell Disease ◽  
Childbearing Age ◽  
Benign Condition ◽  
Cell Testing

There are two main reasons for sickle cell testing: the early detection of those with sickle cell disease and the detection of the carrier state, sickle cell trait. The mortality of the severe forms of sickle cell disease is particularly high during the first 5 years of life. Recent data have shown that early detection of sickle cell disease and institution of expert medical care and follow-up may reduce early mortality and morbidity. The ability to detect most forms of sickle cell disease in the newborn period has made the goal of preventive care theoretically possible. The purpose of the detection of the carrier state, sickle cell trait, is less clear. Sickle cell trait has almost no clinical importance to the individual. Although a few case reports have suggested that sickle cell trait may not be a benign condition, most experts agree that sickle cell trait does not significantly alter health or disease. The main purpose of carrier testing is for genetic counseling. Mass screening of African Americans for sickle cell trait was advocated in the 1960s. However, no data have shown that results of such screening have had any impact on reproductive planning. Ideally, sickle cell testing should provide the following results. All newborns with various forms of sickle cell disease should be diagnosed by 3 months of age, before the onset of clinical problems. All heterozygotes for the βs-globin gene, or the genes for other hemoglobinopathies that may combine with βs gene to produce clinically significant forms of sickle cell disease, should be aware of the relevant genetic information at childbearing age.

scholarly journals Acute Sickle Hepatic Crisis after Liver Transplantation in a Patient with Hb SC Disease

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
J. H. Gillis ◽  
S. K. Satapathy ◽  
L. Parsa ◽  
P. B. Sylvestre ◽  
N. Dbouk
Keyword(s):  
Liver Transplantation ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Complete Recovery ◽  
Beta Thalassemia ◽  
Low Grade ◽  
Cell Disease ◽  
First Case ◽  
Number Of Patients

Acute sickle hepatic crisis (ASHC) has been observed in approximately 10% of patients with sickle cell disease. It occurs predominantly in patients with homozygous (Hb SS) sickle cell anemia and to a lesser degree in patients with Hb SC disease, sickle cell trait, and Hb S beta thalassemia. Patients commonly present with jaundice, right upper quadrant pain, nausea, low-grade fever, tender hepatomegaly, and mild to moderate elevations in serum AST, ALT, and bilirubin. We describe the case of a patient with a history of hemoglobin SC disease and cirrhosis caused by hepatitis C presenting approximately 1 year after liver transplantation with an ASHC. The diagnosis was confirmed by liver biopsy. Our patient was treated with RBC exchange transfusions, IV hydration, and analgesia and made a complete recovery. Only a limited number of patients with sickle cell disease have received liver transplants, and, to our knowledge, this is the first case of ASHC after transplantation in a patient with Hb SC disease.

scholarly journals HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell

2017 ◽  
Vol 2017 ◽  
pp. 1-3
Author(s):  
Grace Onimoe ◽  
Genine Smarzo
Keyword(s):  
Sickle Cell Disease ◽  
Rare Variant ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Globin Gene ◽  
Single Amino Acid ◽  
Beta Thalassemia ◽  
Cell Disease ◽  
Chromosome 11 ◽  
Sequencing Studies

Sickle cell disease (SCD) is caused by a mutation in the sixth codon of the β-globin gene on chromosome 11, which leads to a single amino acid substitution (glutamine to valine). Sickle-(δβ)0-thalassemia is a rare variant of sickle cell disease (delta-beta thalassemia occurring in association with sickle hemoglobin, HbS), sparsely reported in literature, and has been associated with symptomatology necessitating careful monitoring and follow-up. We describe a patient who presented with a newborn screen reported as “FS” and a negative family history for sickle cell disease and sickle cell trait. Subsequent gene sequencing studies demonstrated the presence of Sickle-(δβ)0-thalassemia. Clinical course has remained relatively stable for this patient now at 18 months of age without any SCD related symptomatology or complications. As this is a rare variant of SCD with potential complications, it is important to establish diagnosis towards planning comprehensive care.

scholarly journals Frequencies of Abnormal Haemoglobin Electrophoretic Patterns in Hemolytic Anemia cases in District Swat.

2020 ◽  
Vol 10 (2) ◽  
Author(s):  
Amin Ullah ◽  
Amreek Lal ◽  
Siyab Ahmad ◽  
Akhtar Nawab ◽  
Salman Khan ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Genetic Disorder ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Cell Disease ◽  
Electrophoretic Patterns ◽  
One Year ◽  
Complete Blood Counts

Background: Thalassemia is a genetic disorder due to deletion or mutation in the gene for alpha or beta chain of hemoglobin. Thalassemia, sickle cell disease, HbD, HbE, HbC and other such disorders are genetic defects associated with hemolytic anemia's and other complications. The prevalence of these are significantly growing in Pakistan especially in the northern areas of Pakistan. Its prompt detection is of paramount importance, both for the prevention of thalassemia major and clinically severe other hemoglobinopathies as well as for the epidemiological purposes.Objective: To assess the frequencies of abnormal hemoglobin variants in the suspected cases of hemolytic anemia's, in the population of district swat. Material and Methods: A total of 1832 suspected cases of hemolytic anemias admitted in SGTH/SMC were assessed after taking clinical and familial history. Whole blood samples were collected in EDTA tube; complete blood counts with peripheral smears were prepared. All samples were processed with fully automatic micro capillary hemoglobin electrophoretic movability (SEBEA micro capillary electrophoresis).Results: A normal Hb pattern was observed in 1224 (66.81%) cases and abnormalities were detected in 608 (33.18%) cases. â (beta) thalassemia trait was the commonest abnormality found in 477 (26.03 %) patients followed by â thalassemia major 53 (2.89 %), â thalassemia intermedia 24 (1.31 %), raised HbF for age review after one year 17 (0.92 %), Sickle cell trait 9 (0.49 %), Sickle cell disease 8 (0.43 %), sickle/beta-thalassemia 6 (0.32 %) HbD Trait 5 (0.27 %), HbE (0.21%) and HbC (0.10%) were common hemoglobinopathies.Conclusion: Amongst hemoglobinopathies, â- (beta) thalassemia and sick cell trait/disease is the most common of the hemoglobinopathies in the study area.

Microsurgery in the Sickle Cell Trait Population: Is It Actually Safe?

2020 ◽  
pp. 1-2
Author(s):  
Michael Alperovich ◽  
Eric Park ◽  
Michael Alperovich ◽  
Omar Allam ◽  
Paul Abraham
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Free Flap ◽  
Near Infrared ◽  
Sickle Cell Trait ◽  
Cell Disease ◽  
Flap Transfer ◽  
Free Flap Transfer ◽  
Patient Reported ◽  
Deep Inferior Epigastric Perforator

Although sickle cell disease has long been viewed as a contraindication to free flap transfer, little data exist evaluating complications of microsurgical procedures in the sickle cell trait patient. Reported is the case of a 55-year-old woman with sickle cell trait who underwent a deep inferior epigastric perforator (DIEP) microvascular free flap following mastectomy. The flap developed signs of venous congestion on postoperative day two but was found to have patent arterial and venous anastomoses upon exploration in the operating room. On near-infrared indocyanine green angiography, poor vascular flow was noted despite patent anastomoses and strong cutaneous arterial Doppler signals. Intrinsic microvascular compromise or sickling remains a risk in the sickle cell trait population as it does for the sickle cell disease population. Just like in sickle cell disease patients, special care should be taken to optimize anticoagulation and minimize ischemia-induced sickling for patients with sickle cell trait undergoing microsurgery.

In Reply: Sports and Sickle Cell Trait

PEDIATRICS ◽  
1989 ◽  
Vol 83 (4) ◽  
pp. 650-651
Author(s):  
MICHAEL A. NELSON
Keyword(s):  
Sickle Cell Disease ◽  
Sudden Death ◽  
Sickle Cell ◽  
Sports Medicine ◽  
Sickle Cell Trait ◽  
Cell Disease ◽  
Variable Expression ◽  
Military Recruits ◽  
New Information ◽  
Athletic Activities

Sickle cell trait was included because, at that time, a great deal of speculation and new information was forthcoming regarding sudden death in military recruits who had sickle cell trait. The members of the Sports Medicine Committee believed that it was important to indicate that, in spite of these new concerns, there were no data to indicate that anyone with sickle cell trait should not be included in any athletic activities. Sickle cell disease was excluded because it is a disease with variable expression and one which is characterized by numerous exacerbations and periods of quiescence.

THE CRITICALLY ILL CHILD: SICKLE CELL DISEASE CRISES AND THEIR MANAGEMENT

PEDIATRICS ◽  
1971 ◽  
Vol 48 (4) ◽  
pp. 629-635
Author(s):  
Howard A. Pearson ◽  
Louis K. Diamond
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Mutant Gene ◽  
Point Of View ◽  
Clinical Aspects ◽  
Cell Disease ◽  
Form And Function ◽  
Heterozygous Form ◽  
The Many ◽  
And Function

This brief review, being limited in scope to the recognition and management of the life-threatening and painful crises in infants and children with sickle-cell disease, has not even touched on the intriguing mystery of the molecular basis for the sickling phenomenon–how one amino-acid substitution (gene controlled) in the beta chain sequence of 146 amino acids can cause such serious disruption in form and function; or how this mutation occurred in the first place and why it has persisted in contrast to the rapid disappearance of many other deleterious mutants. Nor has there been even mention of the many milder symptoms, signs, and complications due to the presence of Hb. S., either in the homozygous (disease-producing) state or heterozygous form when found in combination with other hereditary hemoglobin defects. The accumulated knowledge about this mutant gene, its biochemical effects, and geographic distribution is enormous. From a fundamental scientific standpoint, sickle cell disease is one of the best understood of human afflictions. However, from a practical point of view treatment of the patient himself is often only symptomatic and palliative. Nevertheless, prompt and effective therapy of the myriad manifestations of sickle cell disease can effectively reduce morbidity and mortality. The pediatrician who cares for black children in his practice should be familiar with the cardinal diagnostic and clinical aspects of sickle cell disease and its crises.

PATHOGENESIS OF HYPOSTHENURIA IN PERSONS WITH SICKLE CELL ANEMIA OR THE SICKLE CELL TRAIT

PEDIATRICS ◽  
1960 ◽  
Vol 26 (2) ◽  
pp. 249-254
Author(s):  
L. Schlitt ◽  
H. G. Keitel
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Renal Damage ◽  
Sickle Cell Trait ◽  
Urinary Concentration ◽  
Cell Disease ◽  
Renal Vessels

Hyposthenuria was investigated in subjects with sickle cell trait and in patients with sickle cell anemia. The following were observed: 1) in subjects with sickle cell trait both normal and reduced maxima of urinary concentration are found, whereas all untreated patients with sickle cell anemia over 6 months of age have hyposthenuria; 2) hyposthenuria becomes increasingly more severe with advancing age in both sickle cell anemia and sickle cell trait; 3) in a 6-month-old patient with sickle cell anemia and hyposthenuria, the maxima of urinary concentration returned to normal after two transfusions of normal erythrocytes. Reasons are presented for favoring the hypothesis that hyposthenuria in sickle cell disease is due to renal damage, possibly from intravascular sickling of erythrocytes in renal vessels or from the presence of "free" circulating S-hemoglobin.

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