scholarly journals Sickle-Cell Trait: Novel Clinical Significance

Hematology ◽  
2010 ◽  
Vol 2010 (1) ◽  
pp. 418-422 ◽  
Author(s):  
Nigel S. Key ◽  
Vimal K. Derebail
Keyword(s):  
Sickle Cell ◽  
Neonatal Period ◽  
Sickle Cell Trait ◽  
Carrier State ◽  
Medical Advice ◽  
Carrier Status ◽  
Selective Screening ◽  
Disease Phenotype ◽  
Cell Disease ◽  
New Information

Abstract There is a long-standing controversy in the literature as to whether sickle-cell trait (SCT) should be viewed as a benign carrier state or as an intermediate disease phenotype. Because SCT is routinely detected by neonatal screening for sickle-cell disease, it becomes imperative that consensus on this issue be achieved in order to provide the best medical advice to affected individuals. The issue of selective screening in the post-neonatal period was thrust into the limelight recently by the National Collegiate Athletic Association's recommendation that its member colleges and universities test student-athletes to confirm their carrier status if not already known. The stated goal of this recommendation was to prevent exercise-related sudden death in athletes with SCT. We review some of the reported complications of SCT for which new information has emerged, focusing particularly on venous thromboembolism and renal manifestations.

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.

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 Splenic Syndrome in a Young Man at High Altitude with Undetected Sickle Cell Trait

2017 ◽  
Vol 5 (2) ◽  
pp. 153-155 ◽  
Author(s):  
CHKA Fernando ◽  
S Mendis ◽  
AP Upasena ◽  
YJ Costa ◽  
HS Williams ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
High Altitude ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Carrier State ◽  
Splenic Infarction ◽  
Cell Disease ◽  
Rare Presentation ◽  
Abdominal Symptoms ◽  
Life Threatening

Introduction: Splenic syndrome is a rare presentation of sickle cell disease. It is important to rule out this possibility when an ethnically vulnerable patient presents with an acute abdominal symptoms in a background of precipitating events. Case Report: A 26-year-old man who developed a severe abdominal pain at high altitude, found to have a tender splenomegaly. However, further inquiry revealed he is from an area where sickle cell disease is prevalent. Screening for sickle cell disease was positive. Radiological investigations confirmed a massive splenic infarction keeping with a diagnosis of splenic syndrome. Patient was managed conservatively. Conclusion: Sickle cell trait is considered a benign carrier state. However, rarely they can present with life-threatening conditions. Therefore, a high degree of clinical suspicion is required for early diagnosis of these specific entities to avoid increased morbidity and mortality of these patients.

scholarly journals Stuttering Priapism in a Patient with Sickle Cell Trait Treated with Automated Red Cell Exchange Transfusion

2021 ◽  
Author(s):  
Mohammad S Ebraheem ◽  
Madeleine Verhovsek
Keyword(s):  
Sickle Cell ◽  
Exchange Transfusion ◽  
Sickle Cell Trait ◽  
Asymptomatic Carrier ◽  
Carrier State ◽  
Red Cell ◽  
Cell Disease ◽  
Invasive Procedures ◽  
Stuttering Priapism ◽  
Invasive Management

Sickle cell trait (SCT) is typically an asymptomatic carrier state, but sickling complications can occur under extreme conditions. Priapism is known to be associated with sickle cell disease (SCD); The link with SCT is less well established. We report the case of a 19-year old man with SCT presenting with prolonged priapism and a refractory, stuttering course requiring multiple invasive procedures over a five day period, with no clear alternative triggers. In light of ongoing, stuttering priapism, he underwent RBC exchange transfusion with decrease of hemoglobin S (HbS) from 45.8% to 11.7%. This was followed by immediate and sustained cessation of stuttering priapism, with no further episodes at five months. Multiple cases of priapism associated with SCT have been reported in the literature. In most cases invasive interventions were required but RBC exchange was not attempted. RBC exchange has been reported in two people with exertional rhabdomyolysis in the context of SCT, with improvement in one case. In patients with SCT and priapism, conservative measures are used to treat brief episodes, but invasive management is required for persistent or prolonged episodes. RBC exchange transfusion may be considered for treatment of refractory, stuttering priapism in individuals with SCT.

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.

Does the sickle cell trait (heterozygous carrier status) confer protection against malaria?

2012 ◽  
Vol 22 (3) ◽  
pp. 331-333
Author(s):  
C. Désidéri-Vaillant ◽  
J. Sapin-Lory ◽  
L. Di Costanzo ◽  
C. Cano ◽  
D. Lambrechts ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Carrier Status ◽  
Heterozygous Carrier

scholarly journals An Optimized Lentiviral Vector Efficiently Corrects the Human Sickle Cell Disease Phenotype

2018 ◽  
Vol 10 ◽  
pp. 268-280 ◽  
Author(s):  
Leslie Weber ◽  
Valentina Poletti ◽  
Elisa Magrin ◽  
Chiara Antoniani ◽  
Samia Martin ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Lentiviral Vector ◽  
Disease Phenotype ◽  
Cell Disease

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.

Screening for Sickle Cell Disease: A Hospital Based Study in Eastern Odisha, India

2012 ◽  
Vol 2 (2) ◽  
pp. 57-60
Author(s):  
Jayanti Mishra ◽  
Sanghamitra Pati ◽  
Mohammad Akhtar Hussain ◽  
Niraj Srivastava ◽  
Sindhubala Mishra
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Cell Disease ◽  
Medicine Department ◽  
Fetal Haemoglobin ◽  
Medical College ◽  
Rbc Indices ◽  
And Gender ◽  
Cell Gene

The highest frequency of sickle cell gene in India is reported in Odisha. The present study was taken up to assess the presence of sickle cell disease among febrile patients of a medical college of eastern Odisha. Patients referred from both pediatric and medicine department to the Hematology section of the department of Pathology, SCB Medical College, Cuttack were subjected to measurement of RBC indices, Sickling test, Haemoglobin Electrophoresis and Fetal Haemoglobin Estimation. Out of total 1000 referred patients 76(7.6%) were found to be positive for sickling. Two‐third of sicklingpositive patients had sickle cell trait with electrophoretic AS band. There was a significant association between age and positive sickling (χ2 = 24.357; df = 4, P = <0.0001). No significant association was observed between sickling and gender. Sickle cell positive cases are not uncommon in eastern Odisha. Our study demonstrated sickle cell trait to be more common among screened patients than other forms of sickle cell diseases.

scholarly journals Sickle Retinopathy in a Person with Hemoglobin S/New York Disease

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Donovan Calder ◽  
Maryse Etienne-Julan ◽  
Marc Romana ◽  
Naomi Watkins ◽  
Jennifer M. Knight-Madden
Keyword(s):  
New York ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Laboratory Diagnosis ◽  
Compound Heterozygote ◽  
Cell Disease ◽  
Hemoglobin S

A patient who presented with sickle retinopathy and hemoglobin electrophoresis results compatible with sickle cell trait was found, on further investigation, to be a compound heterozygote with hemoglobin S and hemoglobin New York disease. This recently reported form of sickle cell disease was not previously known to cause retinopathy and surprisingly was observed in a non-Asian individual. The ophthalmological findings, the laboratory diagnosis, and possible pathophysiology of this disorder are discussed. Persons diagnosed with sickle cell trait who present with symptoms of sickle cell disease may benefit from specific screening for this variant.

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