Molecular characterization of thalassemia intermedia in Indians.

Thalassemia intermedia shows considerable heterogeneity. The purpose of this study was to evaluate the prevalence and effect of common molecular determinants in thalassemia intermedia. In 73 cases of thalassemia intermedia, the possible molecular basis was co-existent a-deletions (n=16/50), homozygous XmnI polymorphism (n=17/50), both factors (n=3/50), and milder beta-alleles (n=9/50) in homozygous beta-thalassemia (total 50 cases). In heterozygous beta-thalassemia, alphaalphaalphaanti-3.7 triplication was the predominant factor (14/23 cases).

Use of Intron 1 and 22 inversions and linkage analysis in carrier detection of hemophilia A in Indians.

BACKGROUND: Hemophilia A is an X-linked recessively inherited bleeding disorder characterized by deficiency of procoagulant factor VIII (FVIII). METHODS: Sixty unrelated hemophilia A patients and their family members have undergone tests for carrier detection by linkage analysis using the polymorphic markers Bcl I, Xba I and Intron 13 or 22 VNTRs. In families of sporadic hemophiliacs, the carrier status of female subjects was ascertained by linkage analysis along with FVIII:C/VWD Ag estimation. RESULTS: Of the 33 families with positive family history, the defective X chromosome was tracked in 28 mothers. The carrier status of females from hemophilia A families with positive family history, ascertained by linkage analysis and Intron 22 and 1 inversion, was made out in 85% cases. FVIII:C/VWF Ag ratio was evaluated in 36 females from 9 sporadic hemophilic families. Using the FVIII:C/VWF Ag ratio along with linkage analysis, carrier status was determined in 9 (25%) of the 36 females studied. Using Intron 22 inversion along with linkage analysis and FVIII:C/VWF Ag estimation, the informativity in female subjects from families of sporadic hemophiliacs increased from 25% to 52%. CONCLUSION: In the West, linkage analysis with Bcl I, Xba I and Intron 13 or 22 VNTR markers and inversion 22 offers a good tool for carrier detection of hemophilia A in India.

Therapy-related acute promyelocytic leukemia after treatment of carcinoma breast--a case report.

We report a 43-year-old female, with acute promyelocytic leukemia occurring after 9 months of treatment for carcinoma breast. The diagnosis of APL was made on morphology, cytogenetics and molecular studies. In contrast to other published report of therapy related APL (tAPL) the present case presented early after the primary malignancy and underwent a rapid, downhill course.

Effect of wheat grass therapy on transfusion requirement in beta-thalassemia major.

OBJECTIVE: To assess the efficacy of wheat grass juice on transfusion requirement in patients with beta thalassemia major. METHODS: Fifty-three patients of thalassemia major with a median age of 16 years were given wheat grass juice tablets. RESULTS: The Mean pre and post wheat grass therapy, the pack cell requirement was 288.06 +/- 53.25 gm/Kg/year and 301.25 +/- 54.86 gm/Kg/year (p =0.054) respectively. No adverse effects were noted. CONCLUSION: We conclude that wheat grass therapy for one year is not effective in reducing the transfusion requirement in transfusion dependent thalassemia.

Septic arthritis of hip in a neutropenic child caused by Salmonella typhi.

A 5-year-old male child was undergoing chemotherapy for pre-B acute lymphoblastic leukemia. He developed Salmonella typhi arthritis of his left hip joint during neutropenic phase. Infection was successfully treated with intravenous antibiotics without surgical management. S. typhi is a potential cause of arthritis, especially in immunocompromised children. More than 100 other cases of Salmonella arthritis are reviewed and reveal a disease primarily of children and young adults with a favorable treatment response.

Laboratory studies in coagulation disorders.

It is important to go in a stepwise approach to diagnose spectrum of bleeding disorders, so that minimum tests are undertaken to make a definitive diagnosis and to avoid unnecessary tests and laboratory load. Depending on the abnormalities observed in the short screening, extended screening tests can be performed followed by specialized diagnostic tests. Bleeding time is prolonged in thrombocytopenia and platelet function disorders (PFD). If platelet count is normal, extended screening tests such as RVVT, PF3 availability and clot retraction can be performed. Russel viper venom directly activates FX, in presence of PF3, is an indicator of common pathway of coagulation. However, if there is deficiency of PF3 as obtained in PFD and APTT PT are normal, its prolongation indicates PFD. These can be tested invitro by performing RVVT with and without inosithin it is highly suggestive of underlying PFD. In such cases, diagnostic tests for PFD such as platelet aggregation with ADP, ADR, AA, Collagen and Ristocetin can be performed followed by electron microscopy if possible. Few of the interesting cases also have been discussed in the text.

Roles of protein C, protein S, and antithrombin III in acute leukemia.

Protein C, protein S, and antithrombin III were measured in 35 patients with acute leukemia (13 with AML and 22 with ALL). Low levels of proteins C and S were present in 15 (42.9%) and 20 (57.1%) patients, respectively, and 6 patients had low levels of antithrombin (ATIII). Seven patients also had DIC at presentation. There were no significant differences in the levels of protein C, protein S, and ATIII in patients with or without DIC. Twenty patients were available for re-evaluation at the end of induction therapy. The low levels of protein C and ATIII found at diagnosis had risen to normal levels at the end of the induction therapy, while low =levels of protein S remained in 75% of the patients. One patient with low protein C at presentation developed myocardial infarction on day 15, and another patient died of progressive neuropathy. No other thrombotic manifestations were seen. Whether the low protein C, protein S, or antithrombin levels predispose patients with acute leukemia to thrombosis in the absence of DIC is not known.