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.

Sickle Cell Disease in a Patient with Sickle Cell Trait and Compound Heterozygosity for Hemoglobin S and Hemoglobin Quebec–Chori

1991 ◽  
Vol 325 (16) ◽  
pp. 1150-1154 ◽  
Author(s):  
H. Ewa Witkowska ◽  
Bertram H. Lubin ◽  
Yves Beuzard ◽  
Sylvain Baruchel ◽  
Dixie W. Esseltine ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Compound Heterozygosity ◽  
Cell Disease ◽  
Hemoglobin S

scholarly journals Kidney Function Decline among Black Patients with Sickle Cell Trait and Sickle Cell Disease: An Observational Cohort Study

2019 ◽  
Vol 31 (2) ◽  
pp. 393-404 ◽  
Author(s):  
Kabir O. Olaniran ◽  
Andrew S. Allegretti ◽  
Sophia H. Zhao ◽  
Maureen M. Achebe ◽  
Nwamaka D. Eneanya ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Kidney Function ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Cell Disease ◽  
Hemoglobin S ◽  
Black Patients ◽  
Kidney Function Decline ◽  
Egfr Decline

BackgroundSickle cell trait and sickle cell disease are thought to be independent risk factors for CKD, but the trajectory and predictors of kidney function decline in patients with these phenotypes are not well understood.MethodsOur multicenter, observational study used registry data (collected January 2005 through June 2018) and included adult black patients with sickle cell trait or disease (exposures) or normal hemoglobin phenotype (reference) status (ascertained by electrophoresis) and at least 1 year of follow-up and three eGFR values. We used linear mixed models to evaluate the difference in the mean change in eGFR per year.ResultsWe identified 1251 patients with sickle cell trait, 230 with sickle cell disease, and 8729 reference patients, with a median follow-up of 8 years. After adjustment, eGFR declined significantly faster in patients with sickle cell trait or sickle cell disease compared with reference patients; it also declined significantly faster in patients with sickle cell disease than in patients with sickle cell trait. Male sex, diabetes mellitus, and baseline eGFR ≥90 ml/min per 1.73 m2 were associated with faster eGFR decline for both phenotypes. In sickle cell trait, low hemoglobin S and elevated hemoglobin A were associated with faster eGFR decline, but elevated hemoglobins F and A2 were renoprotective.ConclusionsSickle cell trait and disease are associated with faster eGFR decline in black patients, with faster decline in sickle cell disease. Low hemoglobin S was associated with faster eGFR decline in sickle cell trait but may be confounded by concurrent hemoglobinopathies. Prospective and mechanistic studies are needed to develop best practices to attenuate eGFR decline in such patients.

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.

Lead Neuropathy and Sickle Cell Disease

PEDIATRICS ◽  
1974 ◽  
Vol 54 (4) ◽  
pp. 438-441
Author(s):  
Gerald Erenberg ◽  
Steven S. Rinsler ◽  
Bernard G. Fish
Keyword(s):  
Case Report ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Lead Poisoning ◽  
Cell Disease ◽  
Hemoglobin S ◽  
Increased Risk ◽  
Rare Manifestation ◽  
Poisoning In Children

Four cases of lead neuropathy in children with hemoglobin S-S or S-C disease are reported. Neuropathy is a rare manifestation of lead poisoning in children, and only ten other cases have been well documented in the pediatric literature. The last previous case report of lead neuropathy was also in a child with hemoglobin S-S disease. The neuropathy seen in the children with sickle cell disease was clinically similar to that seen in the previously reported cases in nonsicklers, but differed in both groups from that usually seen in adult cases. It is, therefore, postulated that children with sickle cell disease have an increased risk of developing neuropathy with exposure to lead. The exact mechanism for this association remains unknown, but in children with sickle cell disease presenting with symptoms or signs of peripheral weakness, the possibility of lead poisoning must be considered.

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.

Social Work Perspective

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 903-905
Author(s):  
Sandra Hernandez
Keyword(s):  
New York ◽  
Chronic Illness ◽  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
New York State ◽  
Early Years ◽  
Cell Disease ◽  
York State ◽  
The Impact

The ultimate objective of newborn screening for sickle cell disease should be twofold. The first essential step is the identification of the infants at risk. This has been effectively done in New York state as of 1975 through the New York State Newborn Screening Program. However, identifying these children is not enough. Second is the much more complicated task of providing comprehensive follow-up care for families whose children are affected by the disease, including the much needed psychosocial services. This area continues to be sorely neglected. The increased risk of death due to overwhelming infection in the first 3 years of life for children with sickle cell disease has been noted in the literature. When there is no specialized care, 15% to 20% do not survive. Therefore, it is essential for knowledgeable staff to make contact and begin to develop a trusting relationship as soon as possible with parents of infants born with sickle cell disease. Prophylactic penicillin and pneumococcal vaccination can reduce mortality during the early years. Family involvement with a consistent, available team of health care providers is pivotal in understanding this chronic illness and coping effectively with this extraordinary stress. Our staff is available by telephone for consultations with patients or other medical staff during clinic and emergency room visits and hospitalizations. One element that is clear in our experience at the St Luke's-Roosevelt Hospital Sickle Cell Center in New York City is that adjustment to this chronic illness is a lifelong process. One or two counseling sessions at the time of diagnosis are not sufficient to enable families to fully understand the information given or to realize the impact of having a child with a chronic illness.

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