Causes of hospitalization in sickle cell diseased children in western region of Saudi Arabia. A single center study.

OBJECTIVES: To highlight the causes of hospitalization among sickle cell diseased (SCD) children in Al-Madinah Al-Munawarah, Saudi Arabia. METHODS: A retrospective study conducted at the Maternity and Children's Hospital, Al-Madinah Al-Munawarah, Saudi Arabia. A data of 739 SCD children admitted to the hematology/oncology unit between October 2010 and September 2015 were collected. The collected data were analyzed using an independent t test and a Chi square test as appropriate. RESULTS: Approximately 49% of the studied children were presented by acute painful crisis. Acute chest syndrome was reported in 20.9%. Infection was the cause of admission in 17.5%, and acute anemia was reported in 8.1% of the studied patients. No significant difference of the reported clinical manifestations by patients' gender. Children aged <12 years showed significantly high frequency of acute chest syndrome (ACS) (26.5%), while acute painful crisis (66.4%) was significantly more frequent among children aged ≥12 years. CONCLUSION: This study revealed high rate of hospitalization of SCD children because of acute painful crisis, ACS, infection, and anemia. These admissions causes could potentially be continuously assessed to minimize the rate of hospitalization.

Age-related changes in biochemical bone profile in thalassemic children.

BACKGROUND: Osteopathy is an important cause of morbidity in ß-thalassemia major (TM). Although many of the etiopathological factors implicated in thalassemic osteoporosis commence in early disease phases during childhood, limited information exists on bone turnover in children with TM. This study was conducted with the objective to compare bone turnover markers (BTMs) in thalassemic children at different ages. METHODS: In a cross sectional case control study, 47 children (age range, 1.5-18 years) with TM were recruited. BTMs were compared to eighteen age- and sex-matched healthy controls and to 16 adults (age range, 19.67-31.08 years) with TM. RESULTS: Thalassemic children displayed unbalanced bone turnover with an increased bone resorption (shown by high levels of tartrate-resistant acid phosphatase 5b (TRACP5), receptor activator of nuclear factor-kappa B ligand (sRANKL) and sRANKL/osteoprotegerin (OPG) ratio) and a decreased bone neoformation (shown by low levels of osteocalcin (OC)) when compared to healthy children. TRACP5b was the only BTMs studied that showed a significant correlation with age in thalassemic children. For the whole thalassemic children group, regression analyses showed an influence of sex hormones replacement therapy on TRACP5b; pretransfusion hemoglobin and splenectomy on sRANKL; pretransfusion hemoglobin on sRANKL/OPG; and pretransfusion hemoglobin and serum ferritin on OC. CONCLUSION: The present study confirms that TM has profound effects on bone metabolism starting from early childhood. The early onset of bone turnover disturbances in TM indicates the need to investigate possible option to intervene early.

Assessment of cardiac functions in children with sickle cell anemia: doppler tissue imaging study.

BACKGROUND AND AIMS: The extent in which sickle cell anemia (SCA) impacts myocardial function in children is unclear. Doppler tissue imaging (DTI) was introduced as a new non-invasive echocardiographic method for assessment of ventricular systolic and diastolic functions. We undertook this study to assess subclinical impact of SCA on global myocardial performance in affected children using DTI and to correlate it with mean hemoglobin concentration. METHODS: Eighty five children with SCA (mean age 11.82 ± 3.7 years) was included as the study group and 55 age- and sex-matched healthy children as the control group. Conventional two-dimensional echocardiography was performed in both groups and DTI was used to determine right ventricular (RV) and left ventricular (LV) Tei indexes. Mean Hb concentration was correlated to the cardiac functions of SCA children. RESULTS: RV and LV Tei indexes were significantly higher in SCA group (mean ± SD: 0.54 ± 0.19 vs. 0.27 ± 0.01, p <0.0001 and 0.47 ± 0.09 vs. 0.30 ± 0.07, p <0.0001, respectively). Also, mean Hb concentration was correlated negatively with both LV Tei index (r = -0.611, p <0.0001) and with RV Tei index (r = -0.894, p <0.0001). On the contrary, fractional shortening (FS) did not correlate with mean Hb concentration (r = -0.044, p = 0.681). CONCLUSIONS: DTI technique appears to be more sensitive than conventional echocardiography in the early detection of myocardial dysfunction in children with SCA. This provides insights into the value of early screening and the potential for preventive therapy in children to avert cardiac morbidity and mortality in adults with SCA.

High prevalence of iron deficiency anemia in infants attending a well-baby clinic in northwestern Saudi Arabia.

OBJECTIVES: To determine the prevalence of iron deficiency anemia (IDA) in infants aged 6-24 months attending the well-baby clinic in primary health care centers (PHCCs).    METHODS: This cross-sectional epidemiological study was conducted in the Northwestern region of Saudi Arabia from April 2013 to January 2014 in 5 randomly selected PHCCs. The sample size comprised 500 infants, with 100 infants screened from each PHCC. Blood samples were obtained for estimation of hemoglobin and serum ferritin levels.  RESULTS: Out of 500 infants, 246 (49%) cases had IDA with a mean age of 15.4 ± 6.5 months,  with 130 (53%) males, and 116 (47%) females (p=0367). Out of 274 Saudi infants, 126 (51%) cases were diagnosed as IDA.   CONCLUSION: Iron deficiency anemia is very common in Saudi infants aged 6-24 months. A national program directed for primary prevention and early discovery of IDA in Saudi infants is recommended at PHCCs  system. Iron supplementation is to be given at early infancy with universal screening of hemoglobin and ferritin estimation to all infants at 12 months of age.

Comprehensive patient care improves quality of life in transfusion dependent patients with ß-thalassemia.

OBJECTIVES: To investigate levels of quality of life (QOL) among thalassemia patients at the Hereditary Blood Disorders Center in Al-Madinah Al-Munawarah, Kingdom of Saudi Arabia. METHODS: A cross-sectional study was performed on 43 transfusion dependent thalassemia patients compared with 43 normal subjects, as a control, using the World Health Organization Quality Of Life - Brief questionnaire between May 2012 and September 2012 at the Hereditary Blood Disorders Center, Maternity and Children Hospital in Al-Madinah Al-Munawarah, Kingdom of Saudi Arabia. RESULTS: Forty-three thalassemia patients were examined, 23 males and 20 females, and compared with 43 peers (control group), 24 males and 19 females. There was no statistical difference between patients and controls for psychological domains (53.4 versus 56.9, p=0.059) and environmental domains (56.6 versus 57.0, p=0.884). Patients had better social QOL than the control group (39.3 versus 31.7, p=0.003), while the control group had better physical QOL (55.4 versus 61.9, p=0.047). Among patients, there was no statistical difference in QOL domains for variables of age, desferroxamine use, serum ferritin level, disease severity, presence of complications; splenectomy status, hepatitis C virus status, or family history. CONCLUSION: Quality of life in thalassemia patients is similar to the control group particularly social life, though physical health is less. Improvement of patients care from all aspects will improve their QOL. More studies in this field are needed with a bigger sample size.

Fanconi anemia associated with moyamoya disease in Saudi Arabia.

We report a 10-year-old Saudi girl who has Fanconi anemia (FA) and was admitted due to acute hemiplegia, of the right side. She had a previous attack of left side hemiplegia that resolved spontaneously. The brain magnetic resonance angiography showed a cerebrovascular pattern of moyamoya disease. She underwent partially matched related donor stem cell transplantation (SCT), but unfortunately died 3 months later with post SCT complications. The association of moyamoya disease with FA is uncommon, and is rarely reported in the literature. Although this condition may be acquired, it is considered a truly congenital defect in FA, and to identify the etiology of this association furthermore genetic mutation analysis is needed.

Endocrinopathies in beta-thalassemia major. Prevalence, risk factors, and age at diagnosis in Northwest Saudi Arabia.

OBJECTIVE: To define the prevalence, risk factors, and age at diagnosis of endocrinopathies in beta-thalassemia major (BTM) in Northwest Saudi Arabia. METHODS: This retrospective cross-sectional study included patients with BTM attending a combined endocrine-hematology clinic in Al-Madinah, Kingdom of Saudi Arabia from March 2009 to December 2010. Clinical and biochemical data from the initial clinic visits were used to define the prevalence and age of diagnosis of endocrinopathies. Demographic and laboratory variables were analyzed to identify significant risk factors. RESULTS: Eighty-one patients (42 males), aged 2-28 years were screened. Thirty-eight of them (46.9%) had at least one endocrinopathy. Of these, 28.9% (11/38) were aged less than 10 years. Hypogonadism was the most common complication detected in 52.7% (19/36) of patients of pubertal age group and 23.4% (19/81), of all cohort followed by short stature in 20.9% (17/81), subclinical hypothyroidism in 14.8% (12/81) and hypoparathyroidism in 11.1% (9/81). Patients with endocrinopathies were older (p=0.001), had longer duration of transfusion (p=0.001), and were started at a late age on chelation than those without endocrinopathies (p=0.07). Recent serum ferritin was poorly correlated to endocrinopathies (p=0.15). CONCLUSION: Endocrinopathies are common in our BTM cohort, and patients with this condition benefit from regular endocrine screening within the first 10 years of life. Although endocrinopathies were more prevalent in older patients; further, longitudinal studies are needed to define the exact age of onset and independent risk factors for these complications.

Ceftriaxone induced acute multi-organ failure syndrome in a Saudi boy with sickle cell disease.

Multi-organ failure syndrome (MOFS) is a rare life threatening complication of sickle cell disease. It is precipitated by severe vaso-occlusive episodes. We report a Saudi boy with sickle cell anemia, who developed acute MOFS following anaphylaxis to ceftriaxone administration. He had a dramatic recovery after red blood cell exchange transfusion and peritoneal dialysis.

Unusual location of eosinophilic granuloma.

Eosinophilic granuloma EG is a benign self-limiting disease, which belongs to the spectrum of Langerhans' cell histiocytosis LCH. The etiology of LCH remains unknown, although the evidence indicates that it is a clonal proliferative disorder of Langerhans cells, it has also been characterized as reactive disorder, neoplastic process and a berrant immune response. Eosinophilic granuloma is characterized by single or multiple skeletal lesions occurring predominately in children, adolescents and young adults, it accounts for 70% of LCH. It is more common in males, and the common sites are the skull, mandible, ribs, spines and long bones particularly the femur and the humerus. The estimated incidence of EG is 3-4 per million of the population. Vertebral bone involvement is rarely seen and usually affects the vertebral body. We are reporting an unusual case of EG in a female child presented with a solitary lesion at posterior element of lumbar vertebra.

Unusual location of eosinophilic granuloma.

Eosinophilic granuloma EG is a well-recognized benign form of Langerhans cell histiocytosis, most commonly involving the skull bones. In this paper, we report an 8-year-old girl with EG of posterior element of vertebra; she had complete resolution with surgical curettage and bone grafting.

Portal vein thrombosis after splenectomy for beta-thalassemia major.

Portal vein thrombosis is a recognized complication after splenectomy in beta-thalassemia major due to the chronic hypercoagulable state which has been recognized to exist in childhood thalassemia and contribute to thromboembolic events. We are reporting one patient with beta-thalassemia major developed portal vein thrombosis following splenectomy.

Hypoxic ischemic encephalopathy. Incidence and risk factors in North Western Saudi Arabia.

OBJECTIVE: To find the incidence, early outcome and the associated risk factors of hypoxic ischemic encephalopathy(HIE) in Madina Al-Munawara, Kingdom of Saudi Arabia (KSA) and compare it with other centers. Also, to find out whether any of these risk factors are preventable. METHODS: We conducted a case controlled study of HIE in Madina Maternity and Children's Hospital, Madina Al-Munawara, KSA over a one-year-period, from June 1995 to May 1996. All the inborn term babies without major congenital malformations that developed HIE were included in the study. A term baby born next to the index case was taken as a control for each case. Data was collected for possible risk factors. The incidence of risk factors in the 2 groups was analyzed and compared statistically. RESULTS: A total of 70 cases of HIE were recorded in the study period giving an incidence of 5.5 cases per 1000 term births. This incidence is lower compared to many developing countries and comparable to other centers. Among the maternal factors, being a primigravida, with no antenatal care, presence of pregnancy induced hypertension, and complications of pregnancy were significantly higher in the study population. Similarly, the frequency of prolonged 2nd stage of labor, antepartum hemorrhage, delivery by emergency cesarean section (CS) or the use of instruments was significantly higher in the study group. Babies suffering from intrauterine growth retardation and male sex were also at significantly higher risk. The average hospital stay of the cases was 12 days. Twelve cases of severe HIE died before discharge from the hospital giving an overall mortality rate of 17.1%. CONCLUSION: The incidence of HIE and birth asphyxia reported in different studies varies widely. The incidence in our hospital is much lower than reported in many studies from developing countries. The important associated risk factors includes being a primigravida mother, lack of antenatal care, pregnancy induced hypertension, prolonged 2nd stage of labor, delivery by use of instruments or emergency CS and intrauterine growth retardation. Improvement in antenatal care and intra-partum monitoring can decrease the incidence of HIE. The threshold for intervention in cases with fetal distress needs to be lower.

Sickle cell hemoglobin C disease in Saudi Arabia.

Sickle cell hemoglobin C (HbSC) is a disease confined to people of West African ancestry and it has not been reported in the Kingdom of Saudi Arabia (KSA). We are reporting 2 patients with HbSC disease from the western province of KSA (Madinah); one patient presented with severe form of the disease which include transient hypertension.

Hypoxic ischemic encephalopathy. Incidence and risk factors in North Western Saudi Arabia.

OBJECTIVE: To find the incidence, early outcome and the associated risk factors of hypoxic ischemic encephalopathy(HIE) in Madina Al-Munawara, Kingdom of Saudi Arabia (KSA) and compare it with other centers. Also, to find out whether any of these risk factors are preventable. METHODS: We conducted a case controlled study of HIE in Madina Maternity and Children`s Hospital, Madina Al-Munawara, KSA over a one-year-period, from June 1995 to May 1996. All the inborn term babies without major congenital malformations that developed HIE were included in the study. A term baby born next to the index case was taken as a control for each case. Data was collected for possible risk factors. The incidence of risk factors in the 2 groups was analyzed and compared statistically. RESULTS: A total of 70 cases of HIE were recorded in the study period giving an incidence of 5.5 cases per 1000 term births. This incidence is lower compared to many developing countries and comparable to other centers. Among the maternal factors, being a primigravida, with no antenatal care, presence of pregnancy induced hypertension, and complications of pregnancy were significantly higher in the study population. Similarly, the frequency of prolonged 2nd stage of labor, antepartum hemorrhage, delivery by emergency cesarean section (CS) or the use of instruments was significantly higher in the study group. Babies suffering from intrauterine growth retardation and male sex were also at significantly higher risk. The average hospital stay of the cases was 12 days. Twelve cases of severe HIE died before discharge from the hospital giving an overall mortality rate of 17.1%. CONCLUSION: The incidence of HIE and birth asphyxia reported in different studies varies widely. The incidence in our hospital is much lower than reported in many studies from developing countries. The important associated risk factors includes being a primigravida mother, lack of antenatal care, pregnancy induced hypertension, prolonged 2nd stage of labor, delivery by use of instruments or emergency CS and intrauterine growth retardation. Improvement in antenatal care and intra-partum monitoring can decrease the incidence of HIE. The threshold for intervention in cases with fetal distress needs to be lower.

Splenic abscess in childhood B-Thalassemia Major.

Splenic abscess is a rare complication of thalassemia major. In this paper we report a 10-year-old male thalassemic child with splenic abscess. He presented with high-grade fever, abdominal pain and tender splenomegaly. The diagnosis was confirmed by ultrasonography and computerized tomography scan of the abdomen. The patient underwent emergency splenectomy.

Screening for congenital hypothyroidism in North-West region of Saudi Arabia.

OBJECTIVE: The aim of this study is to demonstrate the prevalence of congenital hypothyroidism (CH) in Madina Al-Munawara region, Kingdom of Saudi Arabia (KSA) and to compare the results with other reported studies. METHODS: All deliveries conducted at the Ministry of Health Hospitals, Health Centers and Private Hospitals in Madina Al-Munawara region, KSA during the period from 1989 to 1999 were included in this study. Cord blood samples for thyroid stimulating hormone (TSH) measurement was used for screening. RESULTS: Out of 200,040 deliveries 193,613 infants were screened for CH during the study period. Forty-six infants had hypothyroidism with an overall prevalence of 1:4208 live births. Thirty-three (72%) of the diagnosed infants were Saudi and 13 (28%) were not Saudi. The male to female ratio was 1:3. The mean age at the start of treatment was 9 days. CONCLUSION: The screening program based on the initial measurement of TSH in cord blood is detected by nearly 97% of the total infants born in Madina region over 10 years. The overall prevalence of CH was 1:4208 lower than other local studies. Mental retardation can be prevented by neonatal screening program; however, Neonatologists and Pediatricians should remain vigilant in searching for signs and symptoms of CH.