Study of parathyroid dysfunction among children and adolescent with alpha-thalassemia major

Background: Parathyroid hypofunction is one the endocrinopathies affecting patients with ?-thalassemia major [TM], while parathyroid hyperfunction is not well assessed. In this study, we aimed to evaluate the prevalence of parathyroid dysfunction in children with thalassemia major and to study its relation to age, gender, splenic status, serum calcium and ferritin. Study Sesign: In 70 children with TM /[41 [58.6%] males and 29 [41.4%] females with mean age 14.8+/-2.9 years; range 6-18 years/]; serum levels of intact pa rathormone [iPTH], calcium, phosphorus and alkaline phosphatase were measured. liver iron content was assessed in 42 cases with magnetic resonance imaging by means of T2*. Average serum ferritin was calculated for 1 year prior to the study. Results: Mean iPTH and serum phosphorus were within normal range. Mean calcium was below the lower limit of normal range. Seventy-three percent had normal parathyroid function with 3 [4.3%] had borderline iPTH. The prevalence of parathyroid dysfunction was evident in 27% cases. Thirteen [18.5%] had low iPTH and 6 [8.6%] cases had elevated iPTH levels. Forty-three [61.4%] cases had hypocalcemiaand5 cases [7.1%] had hyperphosphatemia. Age above 12 years, sex, splenectomy, hypocalecemia, serum ferritin above 1500 ng/ml and being not chelated were not proved to be risk factors of parathyroid dysfunction. There is a good correlation between serum ferritin and liver iron concentation [LIC] [r=0.5, p=0.001]. No correlations were found between PTH and age, frequency of blood transfusion, serum ferritin, serum calcium, phosphorus or alkaline phosphatase. Conclusion: Parathyroid dysfunction is common in patients with ?-thalassemia major and worth screening in early childhood even in the absence of hypocalcemia or iron overload. This might be the first step towards decreasing its prevalence among TM population. In addition, the onset and dose of calcium and vitamin D supplementation in pediatric patients with ß-thalassemia major should be re-evaluated

spirometry and cardiopulmonary exercise performance in pateints with thalassemia major

Lung function abnormalities in patients with thalassemia major are various, complex and of different etiological backgrounds. To evaluate the pulmonary function changes during both rest and integrated cardiopulmonary exercise in patients with thalassemia major, we studied 30 thalassemia major cases with mean age of 18 +/- 13.34 years. Nineteen healthy subjects were enrolled as a control group. Routine laboratory tests as well as assessment of pulmonary function test during both rest and integrated cardiopulmonary exercise were performed for cases and controls, Both forced vital capacity [FVC] and forced expiratory flow in the first second [FEV1] were significantly reduced in cases than in controls [p<0.01 for both], pointing to a restrictive pulmonary dysfunction. Seventy percent of cases had FVC below the normal predicted value. Functional capacity, anaerobic threshold and °2 pulse were significantly reduced in cases than controls [p<0.05]. There is a statistically significant inverse correlation between serum ferritin levels and functional capacity. In the studied thalassemics, restrictive pattern of pulmonary dysfunction is the predominant abnormality. Poor cardiopulmonary exercise performance occurs and is multifactorial

Audiologic assessment of beta-thalassemia major children under combined versus single agent chelation therapy

Beta-thalassemia major [BTM] is an inherited blood disorder which leads to life threatening anaemia and requires regular blood transfusions andironchelating therapy throughout life from early childhood. Parenteral chelation therapy with desferrioxamine [DFO] is well established, however, poor compliance with the rigours of parenteral treatment limits its regular use. The orally active iron chelator deferiprone [LI] has been shown to be as effective as DFO in some patients. The improvement of iron status resulting from the combined use of both LI and DFO due to [he additive effects of both drugs and the lack of toxicity caused by combining the drugs, however, suggest that this is a promising new method of iron chelation. This study was undertaken to assess the audiologic test results of combined [LI and DFO] therapy versus single agent [LI or DFO] therapy for reducing transfusional iron overload, and to evaluate the safety of the oral chelator Deferiprone [LI] on the auditory system. Sixty six beta thalassemia major children were included in this study. They were randomly classified into 3 arms: Patients in arm A were under combined DFO and LI chelation therapy. Patients in arm B were under LI therapy and patients in arm C were under DFO therapy. All patients were subjected to full history taking and laboratory investigations. Audiologic evaluation was performed at the beginning of the study [baseline evaluation] and at the 1 year follow-up [termination of the study] and consisted of puretone audiometry [PTA], extended high frequency audiometry, unmittance metry, otoacoustic emission [OAE]; transient evoked OAE [TEOAE] and distortion product OAE [DPOAE] and Auditory brainstem response [ABR]. Patients in arms A and B exhibited an improvement in their PTA and OAE results at the 1 year follow-up period. While patients in arm C presented with deterioration 11 their hearing sensitivity and cochlear function especially it the high frequencies. There was no association between hearing loss, serum ferritin level, age and Hb level. Patients under combined therapy exhibited slightly higher [better] TEOAE and DPOAE results than patients under LI therapy although this did not reach statistical significance. ABR results revealed no significant difference between the 3 arms in the absolute and interpeak latencies of waves I, III and V at the 1 year follow-up period. DFO ototoxicity is more cochlear than ret-rocochlear and is more pronounced at the base of the cochlea and appears to be reversible if diagnosed early. DFO ototoxicity appears to be subject to individual susceptibility. Combined [DFO and LI] therapy and LI chelation therapy preserve cochlear and retrocochlear function. However, combined therapy proved to be slightly superior to LI therapy in preservation of cochlear function in addition to its superior chelating ability. It is recommended that thalassemic patients [especially those under DFO therapy] should undergo regular audiologic assessments by OAEs and should revert to combined [DFO and LI] therapy if cochlear impairment is detected. Deferiprone [LI] appears to be safe on the auditory system,however, its long-term effect still needs to be explored

Bone mineral density in sickle cell disease

Osteoarticular complications are common in sickle cell anemia. Decreased bone mineral density [BMD] can lead to painful microfractures in poorly oxygenated tissue. Therefore, we investigated the BMD in 19 sickle cell disease [SCD] pediatric patients and 10 control children using single photon absorptiometry. In 42.1% of cases, the BMD in the lumbar area was decreased 1.60.3 SD below mean for age. Our results were different from a similar study carried out on American children. However, since other factors responsible for bony complications in this chronic disease can not be avoided, remineralization strategies during the pain-free period is suggested trying to prevent the possible microfractures which play an important role in the etiology of bone painful crises

Specific rubella virus IgG and IgM in umbilical cord sera in Saudi Arabia

The sensitive ELISA assay was used to measure the specific rubella virus IgG and IgM, and also the total IgM in the umbilical cord sera taken from 182 Saudi. mothers during delivery in the Maternity Department at Al Ali General Hospital Riyadh, Saudi Arabia. Nearly 84.6% [154 out of 182] Saudi women tested were found to be immune to rubella virus. The evidence was the significant rise of the specific rubella virus IgG which is an indication of maternal antigen experience rather than foetal infection. This is based on the fact that maternal IgG mainly crosses the placenta to provide the newborn with passive immunity [Brombell, 1966]. Of 30 [16.5%] elevated IgM cord sera screened for specific IgM rubella antibody, only 5 [2.7%] sera were found to be seropositive. Except in one case where maternal exposure at eight [8] weeks gestation was documented, maternal infection was generally subclinical. Although sensitive ELISA assay are available to aid diagnosis, Saudi mothers do not generally accept therapeutic abortion on religious grounds. As seronegative mothers are still at risk, they must be identified and vaccinated. The mandatory screening of all girls at puberty prior to marriage must be practised. Rubella is a preventable disease. The cost of primary prevention is very small compared with the expense and effort of caring for a patient with congenital rubella syndrome