Cholelithiasis in thalassaemia major

The incidence of gall stones in thalassaemia is less than that in sickle cell anaemia or hereditary spherocytosis. With adequate blood transfusions, the incidence is as low as 2%. There are not many reports on cholelithiasis in thalassaemia. A case of 24-year-old female with thalassaemia major and gall stone is reported here.     

The sicca syndrome in thalassaemia major

A 20 year old man with beta thalassaemia developed symptoms of the sicca syndrome. His serum contained rheumatoid factor and antinuclear antibodies. A biopsy specimen of labial salivary gland showed large accumulations of haemosiderin within the parenchymal cells of the acini. Although in this case the sicca syndrome could not be definitely distinguished from Sj?gren's syndrome, the patient's HLA type was not the one usually associated with Sj?gren's syndrome. Histological appearances suggested that the causative factor of the sicca syndrome was iron overload owing to an intensive blood transfusion regimen.     

Providing a cure for beta thalassaemia major

The current treatment options for beta thalassaemia major patients include conservative treatment with blood cell transfusions and iron chelation or stem cell transplantation. Regular blood transfusions inevitably lead to multi-organ haemosiderosis and are attended by risks of blood-borne infections. Results from stem cell transplantation are good and suggest that this should be offered as first line therapy when a matched sibling donor is available because the patient is often cured and able to live a normal life. Of 38 Malaysian children who underwent bone marrow or cord blood transplantations using matched sibling donors, 29 (76%) are now cured.     

Combined oral and parenteral iron chelation in beta thalassaemia major

Thalassaemics in Malaysia are poorly chelated because desferrioxamine is too expensive and cumbersome for long term compliance. The efficacy and tolerability of the oral chelator deferiprone, and the effects of using a combination therapy in our patients were studied. Ten patients completed the study and the mean serum ferritin reduced from 7066.11 ug/L (2577-12,896 ug/L) to 3242.24 ug/L (955-6120 ug/L). The liver iron concentration did not show a significant drop (19.6 vs 18.2 mg/g dry weight) although 3 patients showed reductions ranging from 30-40%. Concomitant use of desferrioxamine increased the urinary excretion from a mean of 13.66 mg/day to 27.38 mg/day. Main side effects seen were nausea and rashes.     

Thyroid function in haemochromatosis

Background In hereditary haemochromatosis (HH), the thyroid gland is the site of substantial iron deposition. However, there have been relatively few reported cases of thyroid dysfunction in HH. Aim To evaluate the prevalence of thyroid disorders in a large group of patients with HH. Methods A variety of endocrine investigations were undertaken including thyroid function tests and thyroid antibody studies. Results A total of 154 consecutive patients (123 male, 31 female) were studied. One case of primary hypothyroidism was identified, giving a prevalence of 0.6%. Subclinical hypothyroidism was identified in two females, giving a prevalence of 1.3%. Iatrogenic hypothyroidism was identified in two other cases. No case of hyperthyroidism was identified. Conclusion Thyroid dysfunction is an uncommon occurrence in patients with HH.     

Prenatal diagnosis of alpha thalassaemia major following cordocentesis--a case report.

The relevant investigations and management of a case of alpha-thalassaemia major suspected antenatally is discussed. The value of ultrasonically guided cordocentesis in the definite diagnosis of this condition is emphasised in the management of this pregnancy. We believe that this is the first time such a procedure has been done in this country.     

肾病综合征甲状腺功能的研究

目的　进一步探讨肾病综合征的甲状腺功能。方法　对 48例肾病综合征大量蛋白尿期测定甲状腺功能 (T3、T4 、TSH)、血清白蛋白、2 4小时尿蛋白 ,另 2 0例治疗获缓解后 3个月复查T3、T4 、TSH ,并与正常健康同龄儿作对照 ;结果　肾病综合征组血T3、T4 水平明显低于对照组 (P均 <0 .0 1) ,TSH差异无显著性 (P>0 .0 5 ) ,各种病理类型血清甲状腺激素和 2 4小时尿蛋白差异无显著性 (P均 >0 .0 5 ) ,单纯性肾病与肾炎性肾病血清甲状腺激素水平差异无显著性 (P均 >0 .0 5 ) ,治疗获得缓解后的患儿血清甲状腺激素水平与对照组相比差异无显著性 (P均 >0 .0 5 ) ,血清T3、T4 变化与尿蛋白呈负相关 (r =-0 .48～ -0 .74) ,与血清白蛋白呈正相关 (r =0 .7～ 0 .78) ;结论　肾病综合征大量蛋白尿期存在暂时性甲状腺功能低下 ,与甲状腺激素伴随大量蛋白尿有关 ,监测甲状腺功能对估计病情、判断预后、指导治疗有重要意义。