Rare presentation of leucocytosis.

We present the case of a 44 years man who presented to us with persistent leucocytosis. Following relevant investigations, we diagnosed him to have Chronic Neutrophilic Leukaemia (CNL); a rare haematological disorder. Ten months later, he remains non-responsive to standard line of treatment.

Antibody to hepatitis-C virus in multi-transfused thalassaemics--Indian experience.

Twelve out of 72 (16.7%) multi-transfused patients with thalassemia major (age range: 7-22 years) were found to be positive for antibody to hepatitis-C virus (anti-HCV). Nine (75%) of these 12 cases were positive for hepatitis B core antibody (anti-HBc) and/or hepatitis B surface antibody (anti-HBs). Out of the remaining 60 patients (83.3%), 27 patients (45%) were positive for anti-HBc and/or anti-HBs, while six (10%) were HBsAg positive Anti-HCV positive patients had significant higher levels of liver enzymes than those who were negative (p < 0.01). S. Ferritin was also significantly higher in those with seropositivity for anti-HCV than those who were negative (p < 0.01). It is concluded that HCV (besides HBV) is a major problem in multi-transfused thalassemia major patients and routine pre-transfusion screening of blood for anti-HCV must be introduced in the blood banks.

Thyroid dysfunction in multi-transfused iron loaded thalassemia patients.

Seventy-two transfusion-dependent iron loaded thalassemia patients were investigated for thyroid dysfunction by estimating circulating thyroid hormones (T4 and T3) and basal thyroid stimulating hormone (TSH). They were also evaluated for their liver function (biochemically) and iron overload by estimating serum ferritin. Thyroid failure (hypothyroidism) was documented in 14 patients (19.4%). In all, 3 groups were seen, i.e. Group 1: Normal T4, T3, TSH (58 patients: 80.6%); Group 2: Compensated hypothyroidism characterized by normal T4, T3 and raised TSH (9 patients: 12.5%); Group 3: Decompensated hypothyroidism characterized by decreased T4 and increased TSH (5 patients: 6.9%). Interestingly, impaired thyroid function could not be correlated with age, amount of blood transfused, liver dysfunction or degree of iron overload. It is postulated that an inter-play between chronic hypoxia, liver dysfunction and iron overload may be responsible for the thyroid damage.

Glanzmann's thrombasthenia.

During January 1981 to June 1991, 20 patients from 16 unrelated families were detected to have Glanzmann's thrombasthenia (GT). Twelve families (75%) had history of consanguinity, with 6 first cousins and 3 uncle-niece marriages; of these 7 were Muslims, 6 Hindus and 3 Christians. There were 12 girls and 8 boys; the mean age at diagnosis was 7.05 +/- 6.03 yr (range 1 day-22 yr). All cases had initial bleeding prior to the age of 5 yr with the mean age at the initial episode of bleeding being 2.21 +/- 1.34 yr (range 1 day-5 yr). Common pattern of bleeding included epistaxis, gingival bleeding, post-traumatic bruises, menorrhagia, gastrointestinal (2 cases), post-operative (2 cases) and spontaneous bleeding (2 cases). No patient showed hemarthrosis, intracranial bleeding or hemoptysis. Menorrhagia was a serious problem necessitating repeated transfusions and hormonal therapy. Twelve cases (60%) required 1-120 units of blood transfusions while five received platelet concentrates.

Anti-nuclear antibody positivity in multi-transfused thalassemia major.

The frequency of anti-nuclear antibodies (ANA) was evaluated in multi-transfused patients of thalassemia major. Twelve out of 83 patients (14.5%) had positive ANA at titres of 1:80 or above. The results were compared with age and sex matched healthy controls who showed positive results in only 1 of 52 cases (1.9%; p less than 0.05). Antibody against double stranded DNA was absent. ANA positivity was found to correlate with higher age (p less than 0.01), more amount of blood transfused (p less than 0.01), splenectomy status (p less than 0.01), higher levels of serum ferritin (p less than 0.01) and presence of hepatitis B surface antigen (p less than 0.01) and antihepatitis C antibody (p less than 0.01).

Efficacy and safety of 1-2, dimethyl-3-hydroxypyrid-4-one (L1) as an oral iron chelator in patients of beta thalassaemia major with iron overload.

Twenty-four patients with beta thalassaemia major, aged 8-22 years (mean 15.3 +/- 8.1) were given 1-2, dimethyl-3-hydroxypyrid-4-one (L1) orally for a period of three months. The drug was given in the dose of 25 mg/Kg/day for the first week and gradually increased to 100 mg/Kg/day which was continued until 3 months. The mean urinary iron excretion was 5.73 +/- 3.648 mg/day on 25 mg/Kg/day of L1; 15.2 +/- 11.225 mg/day on 50 mg/Kg/day; 24.2 +/- 12.69 mg/day on 75 mg/Kg/day and 36.3 +/- 19.4 mg/day on 100 mg/Kg/day of L1. Serum ferritin estimated by ELISA before and 3 months after L1 therapy in 21 patients showed significant drop in levels, the mean drop being 964.3 +/- 844.4 (P less than 0.001). The only side-effects noted were transient gastrointestinal symptoms in 5 patients and skeletomuscular pain in 3 patients. Both these groups of symptoms were of transient nature. The efficacy of L1 appears to be excellent and equivalent to the standard iron chelation therapy available at present i.e. desferrioxamine. It appears to be free of major toxicity. L1 is also a specific chelator for iron as it does not deplete trace metals. L1 appears to be a cheap and effective oral alternative to desferrioxamine for treating iron overloading.