Value of serum ferritin estimation in sickle cell anaemia.

In a group of 35 children with sickle cell anaemia serum ferritin concentration ranged from 70 to 2460 microgram/l (mean 367, median 180 microgram/l). This was significantly higher than the ferritin levels (range 8-101, mean 34, median 30 microgram/l) in a group of 63 normal control children of the same age group. 30 (86%) of the sickle cell children showed serum ferritin levels greater than 101 microgram/l, and 2 (6%) levels greater than 1000 microgram/l. 7 of the patients had not been transfused before this study. Their serum ferritin levels were all raised and showed a significant correlation with age but not with haemoglobin level. In the remainder of the patients the serum ferritin bore no significant correlation with age, haemoglobin level, or number of units of blood transfused. 2 children with HbSC disease had levels within the control range. Since patients with sickle cell anaemia have an increasing chance of long survival, we suggest that serial estimations of their iron status be made by means of serum ferritin assay in order to determine which patients are accumulating excessive iron.     

Acute splenic sequestration in female children with sickle cell disease in the North of Jordan

The objective of this study was to evaluate the rate of acute splenic sequestration (ASSC) in patients with sickle beta-thalassaemia and sickle cell anaemia, the risk of recurrence in those who survive the first episode, and the relationship between ASSC episodes and subsequent hypersplenism. All patients with confirmed diagnosis of sickle cell disease at a tertiary referral teaching hospital, between January 1994 and December 2002 were interviewed and had their medical records reviewed. Seventy-seven patients with sickle cell disease were identified. Their ages ranged between 2 and 18 years (mean, 10.1 years). There were 35 females and 38 males. Thirty-seven (50.6%) had sickle beta-thalassaemia, and 36 (49.4%) had homozygous sickle cell anaemia. Of these, 26 had high level of Hb F and 11 had normal level of fetal haemoglobin (Hb F). Twenty-one patients (28%) had 63 episodes of acute splenic sequestration. Thirty-seven episodes were experienced by 12 patients with sickle beta-thalassaemia; of these 11 were major attacks with one fatality. Twenty-six episodes were experienced by nine patients with sickle cell anaemia. Splenomegaly and hypersplenism were greater in the acute splenic sequestration group than in the rest of the sickle cell anaemia patients, and the differences were extremely significant. ASSC was found in nine siblings of sickle beta-thalassaemia group, while none were found in the sickle cell anaemia group. The mean age of the first episode was significantly higher in sickle beta-thalassaemia, with significant differences in the levels of Hb F, Hb S, size of spleen and severity of crisis between both groups. In the sickle cell anaemia group the only significant difference between patients with and these without acute splenic sequestration was the difference in the size of spleen. In this study, the rate of ASSC in the sickle beta-thalassaemia patients was 32%, in contrast to 25% in the sickle cell anaemia patients. The risk of recurrence was about 70% in those who survived their first episodes. There was a close relationship between ASSC and subsequent hypersplenism. Important predictable factors for ASSC in sickle beta-thalassaemia patients were the presence of splenomegaly of more than 5 cm below the costal margin, history of acute splenic sequestration in siblings and high Hb F. Most of first episodes in sickle cell anaemia occur under the age of 2 years, while in sickle beta-thalassaemia the majority of patients have their first crisis at the age of > or =3.5 years.     

Acute chest syndrome of sickle cell disease: radiographic and clinical analysis of 70 cases

Background. Acute chest syndrome (ACS) is a pulmonary illness with fever, chest pain, leukocytosis and new pulmonary opacity in a patient with sickle cell disease. It is a common reason for hospitalization in sickle cell patients, and a significant cause of mortality. The etiology of ACS is unclear. Lung or bone infarction and infection, among other possible causes, have been proposed. Objective. We reviewed the chest radiographs and medical records of 41 patients with 70 episodes of ACS and correlated the clinical and radiographic courses in an attempt to better characterize and understand the syndrome. Results. In 87 % of episodes, no identifiable etiology of ACS was found. This group of patients had a median age of 14 years and showed dramatic clinical and radiographic improvement within 24 h of therapy. In the remainder of episodes (13 %), an identifiable etiology was found, usually bacterial pneumonia. These patients were younger than the group without an identifiable etiology (median age 2 years) and had a prolonged radiographic course of illness. Conclusion. The chest radiographs of children with ACS without an identifiable etiology have an extremely typical appearance and evolution. Only in cases which do not have this typical pattern should infection be suspected as the underlying cause. Received: 18 December 1995 Accepted: 7 February 1997     

Thyroid functions in mild and severe forms of sickle cell anemia

In the present study, the weight, height, bone age and growth indices of 24 children with homozygote sickle cell anemia were measured and the relationship of these parameters to thyroid function was evaluated and compared with 14 healthy controls in the same age group. The patients consisted of two groups with either mild (n = 12) or severe (n = 12) clinical courses. There was no difference between both patient groups or with the control group with respect to weight (P > 0.05). However, the difference between the mean height percentiles of the homozygote-severe group and the control group was found to be statistically significant (P < 0.05). The bone age remained 41.6% behind normal for age in all homozygote sickle cell anemia patients. The serum T3 and T4 levels of all patients showed no significant differences from those of the control group (P > 0.05). These results show that patients with severe clinical courses may have short stature but their thyroid hormones are within normal limits during the first decade of life.     

Bone marrow in sickle cell anaemia at time of anaemic crisis

Samples of bone marrow from 33 Ghanaian children with homozygous sickle cell anaemia who presented with profound anaemia (haemoglobin less than 5 g/dl) were studied. The principal finding was depression of erythropoiesis (aplastic crisis) in 14 children and erythroid hyperplasia in 17. A splenic sequestration crisis was clinically diagnosed in the remaining two children. Stainable iron was absent in the marrow of 14 children and reduced in another five. Megaloblastic changes compatible with folate deficiency were present in 8 children. It is suggested that iron and folate deficiencies may complicate sickle cell anaemia in children living in geographical areas where nutritional deficiencies are prevalent.     

Bone marrow in sickle cell anaemia at time of anaemic crisis.

Samples of bone marrow from 33 Ghanaian children with homozygous sickle cell anaemia who presented with profound anaemia (haemoglobin less than 5 g/dl) were studied. The principal finding was depression of erythropoiesis (aplastic crisis) in 14 children and erythroid hyperplasia in 17. A splenic sequestration crisis was clinically diagnosed in the remaining two children. Stainable iron was absent in the marrow of 14 children and reduced in another five. Megaloblastic changes compatible with folate deficiency were present in 8 children. It is suggested that iron and folate deficiencies may complicate sickle cell anaemia in children living in geographical areas where nutritional deficiencies are prevalent.     

Cholelithiasis in children with sickle cell disease: experience of a French pediatric hospital]

BACKGROUND: Gallstones are frequently encountered in sickle cell disease. Their complications are difficult to distinguish from vaso-occlusive abdominal pain and they can sometimes threaten the patient's life. The aim of this study was to describe our local experience with cholelithiasis in children with sickle cell disease. PATIENTS AND METHODS: We analyzed the follow-up records and abdominal sonography results of 185 children with sickle cell anemia, aged zero to 18 years, followed up in Trousseau Children's Hospital (Paris) from 1982 to 1998. RESULTS: Cholelithiasis was detected in 26 patients. The youngest patient was five years old. Cholelithiasis was discovered because of clinical manifestations in 12 patients. Asymptomatic cholelithiasis patients developed clinical manifestations in 28% cases in a maximum delay of two and a half years after its diagnosis. Laparoscopic cholecystectomy was performed in nine cases and open cholecystectomy in 17 cases. The mean postoperative length of stay was significantly shorter in the group of patients with laparoscopy in comparison with the group with open cholecystectomy. Histologic analysis of the gallbladders noted 85% of acute or chronic cholecystis. CONCLUSION: We suggest that cholelithiasis should be carefully sought in the presence of abdominal manifestations in sickle cell patients. We recommend that annual abdominal sonography be performed in sickle cell patients as early as seven years of age and elective cholecystectomy be performed on patients with cholelithiasis.     

Status of vitamin D in children with sickle cell disease living in Madrid, Spain

Patients with sickle cell disease have vitamin D deficiency and poor bone health which makes them prone to have an increased risk of fractures and osteoporosis in adulthood. We performed a prospective, cross-sectional study in children diagnosed with sickle cell disease living in Madrid, Spain. The purpose of this study was to evaluate the status of vitamin D of these children. Patients 0?C16?years old were enrolled between 2008 and 2011. We studied demographics, calcium metabolism, and bone health, especially by measuring levels of 25-hydroxyvitamin D (25(OH)D), during different seasons of the year, and bone densitometry (beyond 4?years of age). Seventy-eight children were included in the study. Mean age was 4.8?±?4.3?years, and mean serum 25(OH)D level was 21.50?±?13.14?ng/ml, with no differences in 25(OH)D levels within different seasons. Fifty-six percent of children had levels of 25(OH) vitamin D of <20?ng/ml, whereas 79 and 18?% of them had levels of <30 and <11?ng/ml, respectively. Secondary hyperparathyroidism was observed in 25?% of children. Densitometry was performed in 33 children, and an abnormal z-score was seen in 15.2?% of them with no correlation with levels of 25(OH)D. Conclusions: Vitamin D deficiency is highly prevalent in children with sickle cell disease, who are residing in Madrid, Spain, and it is detected at a young age. We propose that early intervention may increase the possibility of an adequate bone density later in life.     

Cholelithiasis in children with sickle cell disease.

A group of 47 children with homozygous sickle cell disease ranging in age from 2 to 18 years was studied for the prevalence of gallstones. All of these patients had oral cholecystogram and cholecystosonogram. Eight of the 47 patients (17%) had gallstones both on oral cholecystography and on cholecystosonography. These eight patients had a history of recurrent abdominal pain usually localized to the right upper quadrant. All were admitted on several occasions for sickle cell abdominal crises and four of these were admitted for acute hepatic crisis. These patients have undergone elective cholecystectomy and gallstones were found in every patient. The patients have been followed up from seven to 17 months after cholecystectomy and none have had abdominal symptoms or required hospitalization for abdominal crises.     

Sickle cell screening practice in pediatric emergency departments.

Management of black children who present to a pediatric emergency department (ED) commonly requires knowledge of their sickle cell status. To determine the practice of sickle cell screening, 32 pediatric EDs were surveyed. Twenty-eight (88%) completed the survey, and, of these, 22 (79%) included sickle cell screening (differential solubility test for hemoglobin S) in the management of a black febrile six-month-old infant. To determine the method of screening for sickle cell disease, 60 consecutive black children less than two years of age, who presented to a pediatric ED, were reviewed prospectively. In 51 patients (85%), their condition warranted knowledge of their sickle cell status. Of these, parents of only nine (18%) children knew their child's sickle cell status. Thirty-five (69%) patients had a presumptive newborn screening test for sickle cell disease, but only 15 presented between 8 AM and 5 PM on a weekday, the time during which the newborn screening laboratory could be telephoned for test results. For these same 15 patients, 13 had private physicians, but only three physicians had results of newborn sickle cell screening tests. The patients' hospital records were reviewed, and nine (18%) patients had prior sickle cell screening tests, but five of these tests were performed before the child was six months of age. To determine sickle cell status, 30 (59%) patients required a sickle cell screening test in the ED. ED screening detected three (6%) newly diagnosed sickle cell trait patients. In summary, sickle cell screening is recommended for young black children who present to an ED with fever or signs and symptoms supportive of sickle cell disease complications.(ABSTRACT TRUNCATED AT 250 WORDS)     

Effect of G-6 PD deficiency on sickle cell disease in Saudi Arabia

High incidence of G6PD deficiency has been reported in areas of the eastern province of Saudi Arabia where sickle cell gene is also prevalent. This study was conducted to assess the co-incidence of this enzymopathy with Hb S and its influence upon the clinical and hematological expression of sickle cell disease. Eighty three children with SS disease, 145 patients with sickle cell trait and 100 random cord blood as samples with normal Hb AF, and an FS electrophoretic pattern respectively were examined. The frequency of interaction of G6PD deficiency with Hb S was found significantly increased but no effect of this enzyme defect was discerned on the clinical and hematological status of homozygous sickle cell disease.     

Incidence, effects, and management of sickle cell disease in Brazil

Forty-five percent of the 121 million persons who live in Brazil have morphological indications of Black admixture, and 5-6% of them are carriers of the hemoglobin S gene. But even in persons identified as white, the hemoglobin AS genotype is present in about 1%. The total number of people with sickle cell disease is estimated as 45,000. The present analysis is based in 409 patients studied in Rio de Janeiro. The observed frequency of deformities of the vertebrae (18%), bone infarcts (12%), and gnathopathy (4%) was lower than those found in any other series. The proportion of adults with splenomegaly was also lower than that of other studies. Chest pains were more frequent in males, while bone or joint pains and splenic sequestration crises seemed to be more common in females. Effects of the disease in the viability and fertility of these patients were quantified. Fetal loss in 67 pregnancies was 48%. Hemoglobin F levels showed a clear age effect, and higher levels were associated with a more benign course of the disease. Information about the services for prevention and treatment of sickle cell disease that exist in Brazil and one place in Venezuela, is provided. Treatment is only symptomatic in 12 centers, while in S?o Paulo piracetam is being successfully used in the treatment of crises. A brief overview about the current Brazilian studies on this disease is also presented.     

Foreign body aspiration in children

BACKGROUND: The aim was to investigate the role of physical and radiological findings before bronchoscopy in the diagnosis of foreign body aspiration (FBA). METHODS: We retrospectively reviewed the clinical records for 82 patients (mean age 26.4 +/- 21.4 months, range 9 months to 13.5 years; 49 males) with a history suggestive of foreign body aspiration. RESULTS: The presence of a foreign body in the airways was confirmed in 70 children (85.4%) (mean age 25 +/- 14.1 months, 45 boys). Of the 70 children, 63 patients (90%) were under 3 years of age, with a peak incidence during the second year. Of the 70 foreign bodies retrieved, 46 (60%) were vegetable and 35 (76%) of these were nuts. In 42% of the patients the foreign body was located in the right bronchial tree. The most frequent physical findings observed in our patients were persistent cough (75%), localized decreased breath sound (62.8%) and localized wheezing (30%). The clinical triad (concomitant cough, localized wheezing and decreased breath sound) was present in 11 patients (15.7%). All clinical findings had a high positive predictive value with poor sensitivity. In 11 patients (20%) chest X-rays were normal. Five foreign bodies (9.1%) were radiopaque. The most frequent radiological findings observed were localized air trapping (43.6%), followed by atelectasis (40%). The diagnostic sensitivity was 80% and the specificity 33% for the presence of a single positive radiological finding. CONCLUSIONS: Our study confirmed that clinical symptoms and radiological findings before bronchoscopy have a low diagnostic value in children with a history of FBA.     

De la pédiatrie à la médecine adulte : transition des patients drépanocytaires,une étude monocentrique française

Sickle cell disease, a hemoglobin disorder with autosomal recessive transmission, is one of the most common genetic diseases screened in France. Thanks to early management, 95% of sickle cell patients reach adulthood and require transition from pediatric care to adult care. Through a retrospective study of records from serious sickle cell patients over 17 years old, followed in the hematology-oncology pediatric unit of Reims University Hospital Center in France, we analyzed transition conditions, compared pediatric and adult management, and proposed a plan for transition care. As of 1 January 2016, out of 19 sickle cell patients meeting the inclusion criteria, 12 had made the transition from pediatric care to adult medicine. Among the transition group, the transition was proposed by the pediatrician in 92% of cases. The average age of transition was 19.4 years. The time between receiving the information and the last pediatric visit was 2.4 months. Seven out of the 12 patients were informed of their transition during the last pediatric visit. The age of the first adult visit was 20.3 years. There was no alternate or joint consultation. The treatments prescribed during the last pediatric visit were not modified during the first adult visit. The average number of hospitalizations per patient was 2.7 in pediatric care and 3.4 in adult care with a median value of 2 in both groups. Three out of 12 patients died, the average age of death being 26.7 years. Transition is an important milestone in chronic disease patients. More than age, the maturity of the patient must be taken into account. The transition to the adult structure requires early preparation in the teenage years and investment of the adolescent and his family as well as investment of pediatric and adult caregivers. This study points out the need to establish a transition plan within our hospital in collaboration with adult physicians. Continuity of care is necessary to increase the quality of managing patients and cannot be done without a close relationship between pediatric specialists and adult physicians.     

Diagnostic and therapeutic ERCP in the pediatric age group

The role and value of endoscopic retrograde cholangiopancreatography (ERCP) in the pediatric age group is not well established, because pancreatic and biliary diseases are less common in children. This however is not the case in areas like the Eastern Province of Saudi Arabia where sickle cell disease (SCD) and other hemoglobinopathies are common, with increased frequency of cholelithiasis and choledocholithiasis. The purpose of this study was to evaluate the indications, findings, safety and therapies of ERCP in children. One hundred and twenty five children had diagnostic and/or therapeutic ERCP as part of their management at our hospital. Their medical records were reviewed for: age at diagnosis, sex, Hb electrophoresis, indication for ERCP, findings, therapy and complications. There were 77 males and 48 females. Their age at presentation ranged from 5–18 year (mean 13.25 year). The majority of them had sickle cell disease (77.6%). The indications for ERCP were: obstructive jaundice (67.2%), recurrent biliary colic with or without jaundice (10.4%), acute and chronic pancreatitis (7.2%), postoperative bile leak (2.4%), cholangitis with obstructive jaundice (2.4%), hepatitis of unknown etiology (3.2%), cirrhosis of unknown etiology (4%), thalassemia with jaundice (0.8%), hemobilia (0.8%), acute cholecystitis with jaundice (0.8%), and sickle cell disease with ulcerative colitis and obstructive jaundice (0.8%). In six children, ERCP was done following laparoscopic cholecystectomy. ERCP was carried out under sedation in 91 (72.8%) children and under general anesthesia in 34. It was successful in 121 (96.8%) children while cannulation of the Ampulla failed in four. ERCP was normal in 43 children, but eight of them showed evidence of recent stone passage and in six, there were gallstones. In the remaining children, ERCP revealed: normal CBD with stones (18 patients), dilated CBD with stones (17 patients), dilated CBD without stones (19 patients), dilated biliary tree with stones (10 patients), dilated biliary tree without stones (six patients), bile leak (two patients), dilated biliary tree with stones and choledocho-duodenal fistula (one patient), choledochal cyst (two patients), septate gallbladder (one patient), normal ERCP with multiple pancreatic cysts (one patient) and biliary stricture (one patient). The following procedures were carried out: 35 had endoscopic sphincterotomy and stone extraction, 20 had endoscopic sphincterotomy, four had CBD stenting, one underwent removal of a stent, two had insertion of a nasobiliary tube and one had biliary endoprosethesis. There was no mortality. One had bleeding from the site of sphincterotomy which stopped after adrenaline injection. Four patients (3.2%) developed transient mild pancreatitis which settled conservatively. ERCP in the pediatric age group is safe both as a diagnostic and therapeutic procedure. ERCP can provide valuable information which aid in the diagnosis of biliary and pancreatic diseases in children as well as therapy with the technical feasibility of endoscopic sphincterotomy. This is specially so in the era of laparoscopic cholecystectomy, where ERCP should be the treatment of choice in children with CBD stones who are going or have previously undergone laparoscopic cholecystectomy.     

Sickle cell disease: no longer a single gene disorder

Patients who are homozygous for the sickle hemoglobin mutation can present with remarkably different clinical courses, varying from death in childhood, to recurrent painful vasoocclusive crises and multiple organ damage in adults, to being relatively well even until old age. Increasing numbers of genetic loci have now been identified that can modulate sickle cell disease phenotype, from nucleotide motifs within the beta-globin gene cluster, to genes located on different chromosomes. With recent success of the human genome project, it is anticipated that many more genetic modifiers of sickle cell disease will be discovered that can lead to the development of more effective therapeutic approaches. The multigenic origin of the variable phenotype in sickle cell disease will serve as a paradigm for the study of variation in phenotypes of all single gene disorders in man.     

Bone marrow transplantation in the treatment of sickle cell anemia

The possibility of using bone marrow transplantation to treat selected patients with sickle cell anemia has recently been raised by the effectiveness of this approach in an 8-year-old girl suffering from both acute myeloblastic leukemia and sickle cell anemia. The child's sickle cell anemia was converted to the donor's sickle cell trait and she remains in complete remission from her leukemia 22 months following transplantation. This paper considers the therapeutic implications of this child's progress and discusses the major immunological complications, particularly graft-vs.-host disease, which currently limit the more widespread use of marrow transplantation in the therapy of sickle cell anemia.     

Pitted red cell counts in sickle cell disease. Relationship to age, hemoglobin genotype, and splenic size

Splenic reticuloendothelial function, as determined by pitted red cell counts in 114 pediatric patients with sickle cell disease, was evaluated. Patients with homozygous sickle cell disease (HbSS) had a mean pit count of 11.8 +/- 7.0% and the count increased with age. Sickle cell hemoglobin C disease (HbSC) patients had a mean pit count of 4.9 +/- 9.1%, the count being unaffected by age. One patient with HbS-beta thalassemia had a count of 12%, while eight patients with HbS-beta + thalassemia had a mean count of 0.4 +/- 0.3%. There was one patient each with HbSS-alpha thalassemia, HbS-O Arab, and HbS-Lepore, and the pit counts were 4.9, 31.4, and 0.4%, respectively. In both HbSS and HbSC patients, the pit count was significantly lower in patients who had palpable spleens. The pit count may be used as a predictor of disease severity in the sickle cell disorders.     

Role of epistatic (modifier) genes in the modulation of the phenotypic diversity of sickle cell anemia

Sickle hemoglobin is the product of one mutated gene, but the disease phenotype is the product of many genes. Polymorphism among the genes responsible for the pleotropic effects can be epistatic (or modifier) genes contributing to interindividual variation that characterizes sickle cell anemia patients. Modulation in the hemoglobin F levels is associated with the beta-globin gene cluster haplotypes and to gender and chromosomal sites different from chromosome 11 influencing the severity of the disease. Coexistence of alpha thalassemia with sickle cell disease produces hematologic and clinical consequences that are beneficial in some complications but deleterious in others. There is little if any modulation of the phenotype of sickle cell anemia by coexistence of G6PD deficiency. Mutations that favor blood coagulation or thrombosis may influence the phenotype of the disease. Improved understanding of the influence of genes involved in modulating the complex pathophysiology of sickle cell disease may allow prediction of the phenotype of sickle cell patients and aid in management decisions.