The thalassemias are the most common single gene disorder known to mankind. The phenotype of thalassemia depends upon the underlying gene defect in addition to many modulating factors. As the literature describes, inheritance of a β(0) genotype in the homozygous state results in the development of β-thalassemia (β-thal) major with key clinical features being transfusion dependency, physical abnormalities and iron overload. IVS-1-5 (G>C) is the severe β(+) allele whose homozygosity results in severe β-thal. We describe a patient who was asymptomatic until screened and was found to have mild anemia. Detailed analysis revealed the presence of the IVS-I-5 mutation in a homozygous state that was unlikely to present as a transfusion independent state. The study of such cases emphasizes the complexity of genetic interactions that underlie the phenotype of β-thal and highlight the importance of the regulation of Hb F production in β-thal syndromes. Simultaneous inheritance of some loci that modulate Hb F levels probably causes high levels of total hemoglobin (Hb) and to be transfusion independent.

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Erythema multiforme (EM) is an acute, self-limited, Type IV hypersensitivity reactions associated with infections and drugs. In this case of acute promyelocytic leukemia, EM diagnosed during the induction phase was mistakenly attributed to vancomycin used to treat febrile neutropenia during that period. However, the occurrence of the lesions of EM again during the consolidation phase with arsenic trioxide (ATO) lead to a re-evaluation of the patient and both the Naranjo and World Health Organization-Uppsala Monitoring Centre scale showed the causality association as “probable.” The rash responded to topical corticosteroids and antihistamines. This rare event of EM being caused by ATO may be attributed to the genetic variation of methyl conjugation in the individual which had triggered the response, and the altered metabolic byproducts acted as a hapten in the subsequent keratinocyte necrosis.

Background: Peripherally inserted central catheters (PICCs) are commonly being used in haematological diseases for treatment and now are being used even in haemopoietic stem cells transplantation. The present study was planned with an objective to study the complications, safety and efficacy of PICCs in haemopoietic stem cell transplantation for haematological diseases. Methods: A prospective cohort study was conducted in stem cell transplantation department of our tertiary care cancer hospital for a period of two and half years as per the proforma. All patients with hematological cancer who were undergoing stem cell transplantation were enrolled and were followed up until catheter removal or patient death. The basic information was recorded at the time of PICC insertion, weekly care, and removal after the transplantation. The data were analyzed to study the aims and objectives of the study. Results: Seventy two PICCs were inserted over a period of two and half years for a total of 8048 catheter-days (mean of 111.77 +/_ 66.55 days i.e 3.7 months, range: 9 to 269 days). Out of these 72 PICCs, 11 (15.27%) PICCs had complications and all of them were removed at the rate of 1.35/1000 PICC-days. Catheter related blood stream infection (CRBSI) was higher in allogenic transplant group (16%) than in autologous group (2.5%) while thrombosis was present in allogenic group only. Mortality due to non-PICC complications was higher in allogenic transplant (40%) than in the autologous group (7.5%). Conclusion: PICCs plays an integral part to supportive care in hematopoietic stem cell transplantation for hematological cancers.

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