ISSUES TO BE CONSIDERED

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 886-890
Author(s):  
Lori B. Andrews
Keyword(s):  
Health Care ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Sickle Cell Trait ◽  
Potential Effect ◽  
Legal Issues ◽  
State Laws ◽  
Screening Programs ◽  
History Of ◽  
Cell Carriers

The main purpose of screening is to identify infants with sickle cell anemia so that appropriate health care might be given to such infants. The following four types of legal issues will be considered: the extent to which existing state newborn screening laws can accommodate sickle cell anemia, the malpractice concerns related to sickle cell anemia screening, the need for protection of the confidentiality of the data collected by such testing, and the legal issues raised by discrimination against sickle cell carriers. These legal issues cannot be considered in a vacuum, however. Attention must be given to the history of sickle cell screening laws in this country. When state laws mandating sickle cell anemia screening were passed in the early 1970s, they were aimed at giving people information that was helpful for making reproductive choices. Two carriers who were married, for example, had a 25% risk of giving birth to a child with sickle cell anemia. However, because there were no health care measures that could be taken to cure an affected fetus or even to safely diagnose the condition prenatally, the only potential effect of the law was to deter such couples from having children altogether, a tactic criticized as genocidal. Moreover, the early laws lacked provisions for counseling and, thus, fostered misunderstanding and anxiety. The information collected by screening programs apparently also served as a basis for discrimination against people with sickle cell trait. The issues presented by sickle cell anemia screening of newborns are somewhat different because screening is not for the primary purpose of changing reproductive behavior but rather to identify infants who then can be treated.

Sickle Cell Disease

2018 ◽  
Author(s):  
Ann Ng ◽  
Erin S. Williams
Keyword(s):  
African American ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Sickle Cell Trait ◽  
Organ Damage ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
Systemic Involvement ◽  
History Of

Sickle cell anemia (sickle cell disease) is a common hemoglobinopathy with anywhere from 90,000 to 100,000 Americans affected. This chronic condition has a predominance in populations of African descent, occurring in approximately 1 out of 365 African American births, compared to 1 out of 16,300 Hispanic births. The sickle cell trait can be detected in 1 of 13 African American births. One of the most common complications associated with sickle cell anemia, vaso-occlusive crises by sickled cells, results in severe pain. Other issues associated with this condition include acute chest syndrome, lung infections, end organ damage, and stroke. With improvements in the management and prevention of pain crises, infection, and other systemic involvement, these patients are living longer, thus increasing the potential for surgical needs. Whether it is for routine surgeries or surgeries that are due to the natural history of the disease; the pediatric anesthesiologist must be knowledgeable of the management of these patients in order to prevent morbidity and mortality.

scholarly journals New Data on Microdrepanocytic Disease

Blood ◽  
1955 ◽  
Vol 10 (6) ◽  
pp. 623-632 ◽  
Author(s):  
E. SILVESTRONI ◽  
I. BIANCO
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Sickle Cell Trait ◽  
Hypochromic Anemia ◽  
Genetic Data ◽  
Clinical History ◽  
Adult Patients ◽  
Simultaneous Presence ◽  
Genetic Studies ◽  
History Of

Abstract 1. Geographic, clinical and genetic data of 35 new cases of microdrepanocytic disease are presented. 2. These data suggest that sickle cell trait and microdrepanocytic disease are not infrequent in the eastern district of Sicily, perhaps with some small foci of sicklemic subjects. 3. The clinical history of adult patients and the personal examination of some cases of microdrepanocytic disease in children show the existence of mild forms of the disease and of forms appearing late in life. 4. From the clinical viewpoint, this series shows several interesting findings in the patients with microdrepanocytic disease: painful osteoarticular crises are inconstantly present; splenomegaly may undergo a spontaneous lessening during the course of the disease, analogous to that which occurs in sickle cell anemia; in women with microdrepanocytic disease miscarriages are frequent and successful pregnancies and births are extremely rare. 5. Hematologic studies reveal hypochromic anemia, leukocytosis, nucleated erythrocytes in the circulating blood, marked abnormalities in the morphology of the erythrocytes, and decreased cell fragility to hypotonic saline. 6. Genetic studies of the new cases again show the simultaneous presence in the patients with microdrepanocytic disease of the genes responsible for microcythemia and sickle cell trait.

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.

scholarly journals Severe non-exertional rhabdomyolysis from weight loss supplement in sickle cell trait: A perfect storm?

2018 ◽  
Vol 5 (1) ◽  
pp. 35
Author(s):  
Titilope Olanipekun ◽  
Valery Effoe ◽  
Ganiat Adeogun ◽  
Agniezka Gaertig ◽  
Myrtle White ◽  
...  
Keyword(s):  
Weight Loss ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Elevated Serum ◽  
African American Female ◽  
Garcinia Cambogia ◽  
Exertional Rhabdomyolysis ◽  
Serum Creatine Phosphokinase ◽  
History Of

Exertional rhabdomyolysis from sickle cell trait has been documented. Also, cases of rhabdomyolysis from the use of weight loss supplements in the setting of sickle cell trait and exertion have been described. However, the role of sickle cell trait in non-exertional rhabdomyolysis is not clear. We present a case of severe non-exertional rhabdomyolysis from weight loss supplement in a patient with sickle cell trait.A 45-year-old African American female with sickle cell trait presented to the emergency department with two days history of fatigue and mild breathlessness. She also reported diarrhea and vomiting for five days before presentation. She admitted to taking Garcinia cambogia (a dietary supplement) for weight loss one week prior to the onset of symptoms. She denied alcohol or drug use, rigorous physical activity or trauma.She was dehydrated on examination. Laboratory values revealed markedly elevated serum creatine phosphokinase (CPK) and creatinine levels. Garcinia cambogia was discontinued and she was hydrated with intravenous fluids. Her CPK and creatinine levels significantly trended down and she was discharged home with no apparent sequelae.Our patient had multiple episodes of diarrhea and vomiting likely from the use of Garcinia cambogia. We believe she suffered non-exertional rhabdomyolysis from dehydration in the setting of sickle cell trait. Though dietary weight loss supplements are marketed as generally safe, this case suggests otherwise. We emphasize that clinicians routinely inquire about use of these supplements and provide appropriate counseling to patients on the adverse effects, especially among those with sickle cell trait.

scholarly journals ECAST Syndrome (Exercise Collapse Associated with Sickle Cell Trait): First Knock of Sickle Cell in a Young Bodybuilder

2021 ◽  
pp. 74-78
Author(s):  
Janhavi Mahajan ◽  
Dhruv Talwar ◽  
Sunil Kumar ◽  
Sourya Acharya ◽  
Yogesh Kakde
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Vigorous Physical Activity ◽  
Stable Condition ◽  
Young Male ◽  
Exercise Session ◽  
Vigorous Exercise ◽  
Mortality And Morbidity ◽  
Excessive Heat ◽  
History Of

ECAST Or exercise collapse associated with sickle cell trait is a rare phenomenon associated with sickle cell trait and is an important presentation of sickle cell disease in sports medicine. Collapse is seen following vigorous physical activity, which is due to excessive heat, dehydration and other factors associated with physical exercise. This rare syndrome is often missed by the treating physicians as a result of a lack of knowledge about this rare entity leading to massive underreporting. It is important to identify ECAST as a cause of the collapse in young athletes to prevent mortality and morbidity and in order to provide prompt treatment. We report a case of a 25- year-old young male who was a bodybuilder and reported to the gym after a one-year-long break due to lockdown restrictions of COVID19. After a vigorous exercise session, he collapsed in the gym and was brought to the emergency department. After proper history taking and examination, he was suspected to be a case of ECAST due to a history of a similar episode three years back which was treated as a case of exertional syncope with intravenous fluid therapy and a family history of Sickle cell trait with his mother and father both having sickle cell AS Pattern. Ultimately our patient turned out to be a case of Sickle Cell Trait with evidence of AS pattern on Hb electrophoresis and a small-sized spleen visualized on CT Scan of the abdomen. The patient was managed successfully with intravenous fluids and blood transfusion and was discharged in a stable condition. He was counseled about moderating his exercise and is doing well on follow-up.

scholarly journals Elastic property of sickle cell anemia and sickle cell trait red blood cells

2021 ◽  
Vol 26 (09) ◽  
Author(s):  
Endris Muhammed ◽  
James Cooper ◽  
Daniel Devito ◽  
Robert Mushi ◽  
Maria del Pilar Aguinaga ◽  
...  
Keyword(s):  
Elastic Property ◽  
Red Blood Cells ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Blood Cells ◽  
Sickle Cell Trait

Hydroxyurea corrects the dysregulated L-selectin expression and increased H2O2 production of polymorphonuclear neutrophils from patients with sickle cell anemia

Blood ◽  
2002 ◽  
Vol 99 (7) ◽  
pp. 2297-2303 ◽  
Author(s):  
Malika Benkerrou ◽  
Charlotte Delarche ◽  
Lamia Brahimi ◽  
Michèle Fay ◽  
Etienne Vilmer ◽  
...  
Keyword(s):  
Adhesion Molecules ◽  
Sickle Cell ◽  
Adhesion Molecule ◽  
Sickle Cell Anemia ◽  
Plasma Levels ◽  
Polymorphonuclear Neutrophil ◽  
H2o2 Production ◽  
Soluble Adhesion Molecules ◽  
Hydroxyurea Treatment ◽  
History Of

Impaired polymorphonuclear neutrophil (PMN) functions during sickle cell anemia (SCA) may have a pathogenic role in the onset of vasoocclusive events. We used flow cytometry to study, in whole blood, the adhesion molecule expression and respiratory burst of PMNs from children with SCA. Three different clinical groups were studied: (1) patients with no history of vasoocclusive events (n = 15); (2) patients with a history of vasoocclusive events (n = 17); and (3) patients receiving hydroxyurea therapy for severe vasoocclusive events (n = 9). Unstimulated PMNs showed decreased L selectin expression and increased H2O2 production whatever the severity of the disease, reflecting PMN activation. This could contribute to endothelial activation reflected by abnormal plasma levels of soluble adhesion molecules (soluble intercellular adhesion molecule-1, sE selectin, and sL selectin). After stimulation with bacterial N-formyl peptides (N-formyl-methionyl-leucyl-phenylalanine [fMLP]), PMNs from untreated patients with a history of vasoocclusive events showed dysregulated L selectin shedding and increased H2O2 production. Furthermore, in these patients, tumor necrosis factor priming followed by fMLP stimulation induced an H2O2 production significantly higher than in the other patient groups and controls. These impairments could immobilize PMNs on the endothelium, thereby inducing reduced blood flow and fostering microvascular occlusion and vascular damage. In contrast, children treated with hydroxyurea showed near-normal basal and poststimulation H2O2 production as well as normal L selectin shedding after stimulation but no change in plasma levels of soluble adhesion molecules. To our knowledge, this is the first report showing major qualitative changes of PMN abnormalities upon hydroxyurea treatment in SCA patients. This strongly suggests that PMNs are a primary target of this drug.

scholarly journals Progressive glomerular and tubular damage in sickle cell trait and sickle cell anemia mouse models

2018 ◽  
Vol 197 ◽  
pp. 1-11 ◽  
Author(s):  
Santosh L. Saraf ◽  
Justin R. Sysol ◽  
Alexandru Susma ◽  
Suman Setty ◽  
Xu Zhang ◽  
...  
Keyword(s):  
Mouse Models ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Sickle Cell Trait ◽  
Tubular Damage

Newborn Screening for Sickle Cell Disease: Effect on Mortality

PEDIATRICS ◽  
1988 ◽  
Vol 81 (6) ◽  
pp. 749-755
Author(s):  
Elliott Vichinsky ◽  
Deborah Hurst ◽  
Ann Earles ◽  
Klara Kleman ◽  
Bertram Lubin
Keyword(s):  
Sickle Cell Disease ◽  
Mortality Rate ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Comprehensive Treatment ◽  
Cell Disease ◽  
Hemoglobin S ◽  
Screening Programs ◽  
Overall Mortality

Newborn screening for sickle cell disease has been recommended as a method of decreasing patient mortality. However, its effectiveness in accomplishing this has not been reliably measured. To help determine the effectiveness, 10 years of experience in newborn screening have been summarized. The effects of early patient enrollment in a comprehensive treatment program on long-term morbidity and mortality are reported. From 1975 to 1985, 84,663 newborns were screened regardless of race or ethnic background. Bart's hemoglobin was present in 5%, hemoglobin AS in 2.6%, and hemoglobin AC in 0.75%. Excluding Bart's, approximately 3.6% of all newborns were carriers for hemoglobinopathy. Sickle cell disease occurred in 1:951 births (58 hemoglobin SS, 25 hemoglobin FSC, three hemoglobin S-β+-thalassemia, and three hemoglobin S-β°-thalassemia). In addition, one in every 4,233 newborns had a clinically significant thalassemia syndrome (eight hemoglobin FE, ten hemoglobin F only, two hemoglobin H). Compared with other newborn screening programs in California, (congenital hypothyroidism, 1:3,849; phenylketonuria 1:22,474, galactosemia 1:74,103), hemoglobinopathies are the most prevalent congenital disease. Eighty-one newborns with sickle cell disease were followed for 7.2 years. Patients experienced 513 hospitalizations, including 13 episodes of sepsis with or without meningitis and ten acute sequestration crises. The overall mortality rate for patients with sickle cell anemia diagnosed in the newborn period was 1.8%. In comparison, the clinical course of 64 patients with sickle cell anemia diagnosed after 3 months of age and followed for an average of 9.4 years was analyzed. Five of these patients died. In two of these, sickle cell anemia was diagnosed at the time of the death. Overall mortality rate in this group was 8%. In summary, the data indicate that newborn screening, when coupled with extensive follow-up and education, will significantly decrease patient mortality.

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