Sickle Cell Diseases: Diagnosis and Management in Infancy and Childhood

1987 ◽  
Vol 9 (4) ◽  
pp. 121-130
Author(s):  
Howard A. Pearson
Keyword(s):  
Sickle Cell ◽  
Molecular Mechanisms ◽  
The United States ◽  
Western Hemisphere ◽  
Black America ◽  
Clinical Complications ◽  
History Of ◽  
Sickle Cell Disorders ◽  
Hb S ◽  
Considerable Morbidity

From their basic genetic and molecular mechanisms to their clinical expression, the sickle cell hemoglobinopathies are among the best understood of human diseases. However, advances in clinical management have not progressed as rapidly: sickle cell anemia, as of 1987, is still largely incurable and its treatment is empiric and symptomatic. Despite this, today we have a better understanding of the natural history of the sickle hemoglobinopathies and many of their clinical complications. This has led to improved diagnostic, prophylactic, and therapeutic strategies which have reduced the considerable morbidity and mortality of these diseases. The sickle cell disorders will be reviewed from genetic, biochemical, and clinical perspectives. Particular emphasis will be given to the rationale and strategies for neonatal testing and comprehensive clinical follow-up. Although it is widely believed that the gene for Hb S is almost exclusively, African, it has, in fact, a much wider geographic distribution. There is a broad periequatorial sickle cell belt in Africa. From Africa, the sickle gene was introduced into the Western hemisphere by the 16th and 17th century slave trade. In the United States today, sickle cell disorders are particularly prevalent in the South and in the urban North, reflecting the demography of black America. In the Carribean and Latin America, relatively high frequencies are seen in Purto Rico, Cuba, Jamaica, Haiti, Panama, Guyana, and Brazil, but not in Mexico and most of South America.

Correlation of Iron Levels with Asthma and Lung Function in Pediatric Patients with Sickle Cell Anemia

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 12-12
Author(s):  
Yusra D Shaikh ◽  
Nataly Apollonsky ◽  
Bruce Bernstein
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Serum Iron ◽  
Pediatric Patients ◽  
Pulmonary Complications ◽  
Acute Chest Syndrome ◽  
Iron Level ◽  
Obstructive Sleep ◽  
History Of ◽  
Hb S

Introduction:Significant morbidity and mortality in patients with sickle cell disease (SCD) is attributed to the pulmonary sequalae of the disease. Patients with SCD often suffer airway hyper-reactivity, acute chest syndrome (ACS), chronic lung disease, pulmonary hypertension (PHTN), and obstructive sleep apnea (OSA). Recent literature has provided evidence supporting the strong association between asthma and airway hyper-reactivity in SCD. One of the factors linked to chronic inflammation and asthma is iron status. The present study examined whether iron levels are associated with pulmonary complications in pediatric patients with SCD. Method:Through retrospective review of electronic medical records (EMR) we evaluated patients with diagnosis of asthma and SCD. All patients with available PFT (3/21/2013-3/11/2020) and iron studies were included in the analysis. Chi square and ANOVA tests were used to explore relationships of respiratory conditions with lab data and relevant medical history. Results:The analysis reviewed information of 100 patients with SCD -- 56 males and 44 females The sample population had the following genotypes: 63% Hemoglobin (Hb) SS, 23% Hb SC, 2% Hb S Beta Zero Thalassemia, and 12% Hb S Beta Thalassemia. 38% of these patients were receiving treatment via hydroxyurea. The results generated found that patients with a large airway obstruction (LAO) had a marginally statistically significantly higher serum iron level than those with no LAO (p=0.067.) Patients with homozygous Hb S disease were four times as likely to have a history of ACS (p=0.004) than those without and were marginally significantly more likely to be SS and SB0Thal (p=0.052). Patients with history of ACS had a significantly higher mean iron saturation and lower total iron binding capacity (TIBC.) Patients with PHTN had significantly higher serum iron levels (p=0.029). Conclusion:Our findings reveal that while iron might play a more significant role in the development of PHTN and ACS in patients with SCD, the role in asthma is borderline in our sample. These findings, although of borderline statistical significance p=0.067, are clinically noteworthy. These results may open a new window for therapy targeted at maintaining iron in normal physiologic ranges to decrease pulmonary complications in patients with sickle cell anemia. Further studies with larger samples are necessary to clarify the meaning of our marginally significant findings. Disclosures No relevant conflicts of interest to declare.

Prevalence of Sickle Cell Disease, Hemoglobin S, and Hemoglobin C Among Haitian Newborns: Feasibility of Newborn Screening for Hemoglobinopathies in Haiti

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 4235-4235
Author(s):  
Genevieve Arty ◽  
Rotz Seth ◽  
Prasad Bodas ◽  
Lucia De Zen ◽  
Francesco Angelo Zanolli ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
The United States ◽  
Case Finding ◽  
Small Sample ◽  
Western Hemisphere ◽  
Cell Disease ◽  
Sickle Hemoglobin ◽  
Hplc System

Abstract Abstract 4235 Background In the United States, four decades of advances in the treatment of sickle cell disease have reduced mortality rates of affected children from greater than 50% to well below 5%. The greatest impacts have come from inexpensive, non-burdensome interventions. The effectiveness of these interventions relies on universal newborn screening, case-finding, and targeted intervention. We sought to determine the prevalence of sickle cell disease among Haitian newborns and demonstrate feasibility of a hemoglobinopathy screening effort at a large scale. Haiti, the poorest country in the Western Hemisphere, lacks newborn screening. One study examined incidence of hemoglobinopathy traits (HbS and HbC) among infants of recent Haitian immigrants in Maimi, FL, USA, and reported an incidence of 8% and 4.7%. The study was limited by small sample size, and a population that might differ from native Haitians. Another study examining the prevalence of sickle hemoglobin among healthy adult volunteers in Northern Haiti, reported at 15.5%. Testing methods did not distinguish trait from homozygous disease, though volunteers were clinically well. In a previously published pilot study, our group sought to address these limitations through direct screening of newborns. We screened 259 newborns. We demonstrated prevalence of S trait, SS disease, and SC disease of 10%, 1.5%, and 1.5% respectively. In this report we present an update and demonstrate the scalability and feasibility of our approach in a much larger population. Methods 2459 consecutive newborns at Saint Damien Pediatric Hospital in Port-Au-Prince, Haiti in 2010 were screened for detection of hemoglobin types F,A,S,C,D, and E to establish prevalence of Sickle Hemoglobin. Heel-prick specimens were obtained and placed on filter paper (S&S 903, Schleicher & Schuell, New Hampshire, USA) and sent to Pordenone Hospital, Italy. Screening was performed using the Variant HPLC system (Bio-Rad Laboratories, California, USA), then Variant NBS HPLC system (Bio-Rad Laboratories, California, USA). Our project has evolved from screening only, to active case finding and provision of comprehensive disease management. The program is driven by local physician leaders and supported by a multinational team of academic and clinical staff. Results Among 2459 screened neonates 2258 specimens were able to be tested. 201 were unable to be tested due to technical issues with samples. Of the 2258 samples tested, 247 had HbS, fifty-seven had HbC, ten had HbSS, and three had HbSC. This yields a prevalence of 10.9%, 2.5%, 0.44% and 0.13% respectively. This corresponds to the prevalence of HbSC or HbSS of one in one hundred seventy three newborns. Conclusions Sickle cell disease is highly prevalent in Haiti, warranting universal screening and treatment efforts. We have demonstrated feasibility of newborn screening in Haiti. We recognize that challenges will exist in expanding this project to remote settings. Further, given that 78% of children in Haiti are born outside of hospitals, challenges to screening these patients remain. Nonetheless, this project provides valuable data at a scale suitable to inform clinical decision-making as well as health policy development. Disclosures: No relevant conflicts of interest to declare.

Race, the Law, and Religion in America

2017 ◽  
Author(s):  
Michael Graziano
Keyword(s):  
United States ◽  
American Culture ◽  
Minority Groups ◽  
The United States ◽  
Western Hemisphere ◽  
Religious Groups ◽  
Religion And Law ◽  
History Of ◽  
Human Difference ◽  
Material Power

The history of race, religion, and law in the United States is a story about who gets to be human and the relevance of human difference to political and material power. Each side in this argument marshaled a variety of scientific, theological, and intellectual arguments supporting its position. Consequently, we should not accept a simple binary in which religion either supports or obstructs processes of racialization in American history. Race and religion, rather, are co-constitutive. They have been defined and measured together since Europeans’ arrival in the western hemisphere. A focus on legal history is one way to track these developments. One of the primary contradictions in the relationship between religion and race in the U.S. legal system has been that, despite the promise of individual religious free exercise enshrined in the Constitution, dominant strands of American culture have long identified certain racial and religious groups as a threat to the security of the nation. The expansion of rights to minority groups has been, and remains, contested in American culture. “Race,” as Americans came to think about it, was encoded in laws, adjudicated in courts, enforced through government action, and conditioned everyday life. Ideas of race were closely related to religious and cultural assumptions about human nature and human origins. Much of the history of the United States, and the western hemisphere of which it is part, is linked to changing ideas about—even the emergence of—a terminology of “race,” “religion,” and related concepts.

Healthcare in Cuba

2020 ◽  
pp. 79-83
Author(s):  
Elena Frolova
Keyword(s):  
United Arab Emirates ◽  
Black People ◽  
The United States ◽  
Western Hemisphere ◽  
Fidel Castro ◽  
Island States ◽  
Long Time ◽  
History Of ◽  
Higher Medical Education ◽  
Cuban Population

Besides the fact that it is located in the Western Hemisphere, belongs to island states of the Caribbean, and Fidel Castro has been its undisputed leader for a long time, what do we know about Cuba? In your opinion, the indigenous people of the island are surely black people, and only few know that Cuba is home to more than 100 thousand Chinese people, who came to the country many years ago to develop nickel reserves. At the same time, it turns out that 65 % of the Cuban population is white-skinned, and the problem of aging on the island is as topical as in Japan. With a more detailed study of life in this country, it turns out that Cuba is ahead of Brazil in terms of its development, occupies 33rd place according to its life expectancy (ahead of the United States, China and the United Arab Emirates), and has the lowest infant mortality rates in the Western Hemisphere after Canada. One of the most honorable professions in Cuba is the specialty of a physician, and, in total, about 70 thousand specialists with higher medical education work in the country with 11 million population. On the whole, this country has a rich history, and the history of health care development in Cuba is very interesting and informative.

scholarly journals Neonatal screening for sickle cell disorders in Ouagadougou, Burkina Faso: a pilot study

2005 ◽  
Vol 12 (3) ◽  
pp. 112-114 ◽  
Author(s):  
Eléonore Kafando ◽  
Mamadou Sawadogo ◽  
Frédéric Cotton ◽  
Fanchon Vertongen ◽  
Béatrice Gulbis
Keyword(s):  
Sickle Cell ◽  
Neonatal Screening ◽  
Screening Programme ◽  
Public Health Problem ◽  
Major Public Health Problem ◽  
Blood Samples ◽  
Maternity Hospitals ◽  
Sickle Cell Disorders ◽  
Hb S ◽  
Compound Heterozygotes

Objectives: To determine the incidence of sickle cell disorders (SCDs) and the feasibility of a neonatal screening programme in Ouagadougou. Methods: During 2000, 2003 and 2004, 2341 cord blood samples obtained in five maternity hospitals in Ouagadougou were screened for SCDs using an isoelectric focusing technique. The feasibility of a neonatal screening programme was evaluated. Results: The incidence of SCD was 1:57; 14 neonates were homozygous for haemoglobin (Hb)S and 27 were compound heterozygotes for HbSC. Thirty-two neonates were homozygous for HbC. The incidence of the HbC trait was 1:6; incidence of the HbS trait was 1:14. A centralized laboratory for neonatal screening of SCDs was established. Conclusions: SCDs should be considered a major public health problem in Ouagadougou. A neonatal screening programme should be implemented, but to be effective it requires strategies adapted to the local situation.

scholarly journals Milestones in the History of Thalassemia and Sickle Cell Disease

2014 ◽  
Vol 4 (3) ◽  
pp. 29-32
Author(s):  
Dimitris Loukopoulos
Keyword(s):  
Sickle Cell Disease ◽  
Economic Impact ◽  
Sickle Cell ◽  
Molecular Mechanisms ◽  
Medical Problem ◽  
Cell Disease ◽  
High Frequencies ◽  
History Of

The inherited hemoglobin disorders are a challenging topic for many reasons; they are caused by a variety of interesting molecular mechanisms, have a complicated pathophysiology, they constitute a multifaceted medical problem with pain and misery for the patients and unhappiness for their families, create several diagnostic and therapeutic questions, and they have a huge social and economic impact across the countries where they occur in high frequencies.

Chromatographic analysis of Hb S for the diagnosis of various sickle cell disorders in Pakistan

2008 ◽  
Vol 87 (8) ◽  
pp. 639-645 ◽  
Author(s):  
Nazish Khalid Hashmi ◽  
Bushra Moiz ◽  
Maliha Nusrat ◽  
Mashhooda Rasool Hashmi
Keyword(s):  
Sickle Cell ◽  
Chromatographic Analysis ◽  
Sickle Cell Disorders ◽  
Hb S

Alkaptonuria – Many questions answered, further challenges beckon

2019 ◽  
Vol 57 (2) ◽  
pp. 106-120
Author(s):  
AS Davison ◽  
AT Hughes ◽  
AM Milan ◽  
N Sireau ◽  
JA Gallagher ◽  
...  
Keyword(s):  
Molecular Mechanisms ◽  
Human Subjects ◽  
Clinical Manifestations ◽  
Homogentisic Acid ◽  
Common Disease ◽  
Clinical Complications ◽  
Disease Modifying Therapy ◽  
Treatment Measures ◽  
History Of ◽  
Collagenous Tissues

Alkaptonuria is an iconic rare inherited inborn error of metabolism affecting the tyrosine metabolic pathway, resulting in the accumulation of homogentisic acid in the circulation, and significant excretion in urine. Dating as far back as 1500 BC in the Egyptian mummy Harwa, homogentisic acid was shown to be central to the pathophysiology of alkaptonuria through its deposition in collagenous tissues in a process termed ochronosis. Clinical manifestations occurring as a consequence of this are typically observed from the third decade of life, are lifelong and significantly affect the quality of life. In large supportive and palliative treatment measures are available to patients, including analgesia, physiotherapy and joint replacement. Studying the natural history of alkaptonuria, in a murine model and human subjects, has provided key insights into the biochemical and molecular mechanisms underlying the pathophysiology associated with the disease, and has enabled a better understanding of the common disease osteoarthritis. In the last decade, a major focus has been on an unlicensed disease-modifying therapy called nitisinone. This has been shown to be highly efficacious in reducing homogentisic acid, and it is hoped this will halt ochronosis, thus limiting the clinical complications associated with the disease. A well-documented metabolic consequence of nitisinone therapy is hypertyrosinaemia, the clinical implications of which are uncertain. Recent metabolomic studies have helped understand the wider metabolic consequences of nitisinone therapy.

scholarly journals The presence of hemoglobin S and C Harlem in an individual in the United States

Blood ◽  
1975 ◽  
Vol 46 (3) ◽  
pp. 363-367 ◽  
Author(s):  
W Moo-Penn ◽  
K Bechtel ◽  
D Jue ◽  
MS Chan ◽  
G Hopkins ◽  
...  
Keyword(s):  
United States ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Clinical Course ◽  
Early Adulthood ◽  
The United States ◽  
Hemoglobin S ◽  
Hb S ◽  
Chemical Evidence

Abstract The first reported case of hemoglobin S and C Harlem in an individual is described. The patient, a 35-yr-old female, had numerous crises during adolescence and early adulthood, but these occurred more infrequently as she grew older. Chemical evidence is presented for the characterization of both variant hemoglobins. The clinical course of this individual with Hb S in combination with Hb C Harlem appears to be similar to that for persons with sickle cell anemia.

scholarly journals Acute compartment syndrome in a patient with sickle cell disease

2020 ◽  
Vol 102 (9) ◽  
pp. e1-e2
Author(s):  
E Cochrane ◽  
S Young ◽  
Z Shariff
Keyword(s):  
Sickle Cell Disease ◽  
Compartment Syndrome ◽  
Sickle Cell ◽  
Rare Complication ◽  
The United States ◽  
Acute Compartment Syndrome ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
The United Kingdom ◽  
Considerable Morbidity

Haemoglobin SC (HbSC) disease accounts for 30% of cases of sickle cell disease in the United Kingdom and the United States. Unlike other sickle cell carriers, who are relatively asymptomatic, people with HbSC disease have a combination of genotypes with the potential to cause considerable morbidity due to intracellular water loss. Patients can present with acute pain, acute chest syndrome, proliferative retinopathy, splenic and renal complications, or stroke. We present a young man with HbSC disease who developed acute compartment syndrome. This is only the second report of this syndrome in a patient with HbSC disease. This is a very rare complication in HbSC disease, but it can have serious implications.

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