Key Determinants of Phenotypic Heterogeneity of Hb E/β Thalassemia: A Comparative Study from Eastern India.

HbE Beta thalassemia is phenotypically very diverse disease. We aim to study role of various genetic factors in determining severity of this disease. 243 diagnosed cases of HbE Beta thalassemia were included in this study.

Association of alpha hemoglobin-stabilizing protein (AHSP) gene mutation and disease severity among HbE-beta thalassemia patients.

In this study, we aimed to investigate the pattern and association of genetic mutations occurring within the alpha hemoglobin-stabilizing protein (AHSP) gene among HbE beta thalassemia patients with varying phenotypic expressions. Fifty-four diagnosed cases of HbE beta thalassemia (transfusion dependent and independent) were included in the study. Among them, 38 patients with similar genotypes (IVS 1-5, alpha gene deletion and triplication, Xmn polymorphism) were selected for further analysis.

Efficacy of decitabine as hemoglobin F inducer in HbE/β-thalassemia.

To study safety, efficacy (hemoglobin and hemoglobin F percentage increment in non-transfusion-dependent patients and decrease in transfusion frequency in transfusion-dependent patients), and determinants of response of decitabine in patients with HbE/β-thalassemia. Thirty patients of HbE/β-thalassemia (age > 18 years) were enrolled. Both transfusion-dependent (TDT) and non-transfusion-dependent (NTDT) patients were included after obtaining informed consent.

Isolated third nerve palsy: a rare neurological presentation of Burkitt's lymphoma.

Lymphoma patient presenting with isolated third nerve palsy is relatively rare, and diagnosis of underlying disease may be challenging. Until this date, less than 20 cases have been described in the literature. This is the case of a 3-year-old boy who presented to neurologist with ptosis of left eye for 8 days.

A rare cause of anuria in a case of pre-B acute lymphoblastic leukaemia.

Renal failure in cases of acute lymphoblastic leukaemia during induction is mainly because of sepsis and tumour lysis syndrome. This 18-year-old man had sudden onset anuria with increase in creatine. At this time, patient did not have any overt signs or laboratory features suggestive of sepsis.

Case of lymphadenopathy with lytic bone lesions.

Plasmablastic lymphoma, a rare highly aggressive non-Hodgkin's lymphoma subtype, often associated with HIV infection, is a close differential diagnosis of plasmablastic myeloma. The 2 conditions may be morphologically and immunophenotypically identical. However, differentiating between the 2 conditions is critical for adequate patient management.

Thyroid abscess in case of Pre B acute lymphoblastic leukaemia: a rare presentation.

Thyroid abscess is a very rare clinical condition. It usually occurs in immunocompromised individuals or those with underlying malignancy. We report a case of multiple thyroid abscesses in the patient with Pre B acute lymphoblastic leukaemia which developed secondary to hematogenous spread from pyomyositis of right calf muscle.

Sero-Negative Systemic Sclerosis: A Rare Presentation.

Systemic Sclerosis is a multisystem disease associated with progressive fibrosis of skin and internal organs. It is diagnosed by presence of characteristic clinical findings and is supported by specific serologic abnormalities. ANA is positive in case of systemic sclerosis in 90 percent of cases.