Publications by authors named "Fouzia Aboobacker"

Background: Severe hemophilia A is managed with factor VIII replacement or hemostatic products that stop or prevent bleeding. Data on gene therapy with hematopoietic stem-cell (HSC)-based expression of factor VIII for the treatment of severe hemophilia A are lacking.

Methods: We conducted a single-center study involving five participants 22 to 41 years of age with severe hemophilia A without factor VIII inhibitors.

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Total marrow and lymphoid irradiation (TMLI) can deliver higher doses of irradiation without increased toxicity. This study evaluated TMLI and cyclophosphamide in patients undergoing stem cell transplantation for acute lymphoblastic leukemia (ALL). A total of 58 patients underwent matched related, unrelated, or haplo-identical donor transplantation using TMLI.

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Haplo-identical stem cell transplant using post-transplant cyclophosphamide is increasingly being used in children without a matched sibling donor. Between 2010 and June 2021, 127 children underwent 138 transplants with a median age of 7.1 years for malignant and non-malignant disorders.

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Article Synopsis
  • Osteopetrosis is a group of inherited bone disorders caused by issues with osteoclasts, affecting bone density and treatment options based on disease severity.
  • A study on 31 Indian patients identified 30 genetic variants, mostly involving specific genes, with 17 being novel findings, highlighting the genetic complexity of the condition.
  • Accurate genetic diagnosis is crucial for treatment decisions, such as stem cell transplantation, and can facilitate prenatal screening for affected families.
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We studied the incidence of relapse, transformation to myelodysplastic syndrome/acute myeloid leukemia, and survival in patients with aplastic anemia (AA) surviving more than 1 year after ATG/ALG-based immunosuppressive therapy (IST) between 1985 and 2020. Four-hundred seventy patients (413 adults and 57 children) were studied, and data were compared with 223 patients who underwent matched sibling donor transplant (MSD HSCT). Median follow-up is 50 months (12-359).

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Aims: Long term survivors of haematopoietic stem cell transplantation (HSCT) for β-thalassemia major are designated "ex-thalassaemics". Whether ex-thalassaemics continue to harbour residual myocardial dysfunction and thereby stand the risk of heart failure-related morbidity and mortality is unknown. The aim of this study was to assess the prevalence and predictors of subclinical left ventricular (LV) dysfunction in an apparently normal ex-thalassaemic population.

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The assessment of measurable residual disease (MRD) has emerged as a powerful prognostic tool for both pediatric and adult acute lymphoblastic leukemia (ALL). This retrospective study aimed to evaluate the prognostic relevance of the end of induction MRD in B-cell acute lymphoblastic leukemia (B ALL) patients. The study included 481 patients who underwent treatment for B ALL between August 2012 and March 2019 and had their MRD at the end of induction assessed by flow cytometry.

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Introduction: Total marrow lymphoid irradiation (TMLI) can deliver higher doses of irradiation without increasing toxicity compared to Total body irradiation (TBI).

Methods: Twenty adult patients undergoing hematopoietic stem cell transplantation (HSCT) for acute lymphoblastic leukemia (ALL) and chronic myeloid leukemia with lymphoid blast crises (CML-LBC) received TMLI and cyclophosphamide for conditioning. Ten patients each received 13.

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Allogeneic hematopoietic stem cell transplantation (HSCT) is a feasible treatment option for Gaucher disease (GD). Among 60 patients diagnosed with GD over 15 years (2004-2019), three children who underwent HSCT (January-November 2017) were analyzed. Two boys (cases 1 and 2) and one girl (case 3) received HSCT at 3, 7, and 10 years of age, respectively.

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Introduction: Type 3 von Willebrand disease (VWD) is a rare autosomal recessive disorder characterized by undetectable von Willebrand Antigen (VWF:Ag). Carriers of type 3 VWD carry one null allele and have von Willebrand factor (VWF) at about 50% of normal. The aim of this study was to characterize type 3 VWD carriers and to study the role of Platelet Function Analyzer (PFA-200) in this cohort.

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Haploidentical stem cell transplantation (SCT) using post-transplantation cyclophosphamide for graft-versus-host disease (GVHD) prophylaxis is a reasonable therapeutic option for patients who do not have a matched sibling donor. Between 2010 and June 2020, 257 patients underwent 269 Haploidentical transplantations, including 122 children. Indications included both malignant (56.

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Although telomere shortening is seen frequently in patients with aplastic anaemia (AA), there are no data on its association in matched sibling donor (MSD) transplants. We evaluated the effect of pre-transplant telomere length of patients and donors, measured by quantitative real-time polymerase chain reaction in 163 recipients undergoing MSD transplants. The median age of patients and donors was 24 and 26 years, respectively.

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Article Synopsis
  • Systemic autoinflammatory diseases (SAID) are rare genetic disorders causing chronic inflammation and are linked to defects in immune signaling genes, with a study conducted on Indian patients to analyze their clinical and molecular characteristics.
  • Data from six medical centers in India was collected, revealing 107 patients with SAID, with 29 excluded due to incomplete information; the study identified various subtypes of SAID, such as type 1 interferonopathies and inflammasome-related diseases.
  • Most patients experienced significant delays in diagnosis, and treatments included corticosteroids and immunosuppressive drugs, highlighting the complexity of managing these conditions.
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Background: Hematopoietic stem cell transplantation (HSCT) is the curative option for many primary immune deficiency disorders (PID). In the last 5 years, increased awareness, availability of diagnostics based on flow cytometry, genetic testing, improved supportive care, use of reduced toxicity conditioning, and success of haploidentical donor HSCT have improved access to HSCT for children with PID in India. We present results on children with PID who underwent HSCT across India and the factors that influenced outcome.

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There is limited data on iron reduction therapy (IRT) after successful allogeneic haematopoietic stem cell transplantation (aHSCT) for patients with thalassemia major (TM). We present the long term outcome of IRT in 149 patients with TM who underwent aHSCT during January, 2001-December, 2012. The median age was 7 years (range:1-18) and 92 (61.

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Primary immunodeficiency diseases (PIDs) are a group of clinically and genetically heterogeneous disorders showing ethnic and geographic diversities. Next-generation sequencing (NGS) is a comprehensive tool to diagnose PID. Although PID is common in India, data on the genetic spectrum of PIDs are limited due to financial restrictions.

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Constitutional mismatch repair deficiency (CMMRD) syndrome results from bi-allelic mutations in DNA mismatch repair genes-MLH1, MSH2, MSH6, or PMS2. We present two siblings with CMMRD having p.Arg802Ter (c.

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Assessment of measurable residual disease (MRD) has emerged as a powerful prognostic tool in pediatric and adult acute lymphoblastic leukemia (ALL). In this single-centre retrospective study, we evaluated the prognostic relevance of MRD based on copy numbers in Ph + ALL patients between 2006 and 2018. Molecular responses were evaluated at 3, 6, 9 and 12 months after the initiation of treatment.

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Background: High-dose melphalan (MEL) is the standard conditioning regimen used for autologous stem cell transplantation (ASCT) in patients with multiple myeloma (MM). Generic MEL is routinely used in various transplant centers across the world including ours due to its reduced cost and ease of availability. We compared the pharmacokinetics (PK) and the clinical efficacy of generic MEL with that of the innovator formulation in MM patients undergoing ASCT.

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Aims: Congenital neutropenia (CN) is a rare inherited disease that results in recurrent, life-threatening bacterial infections due to a deficiency of mature neutrophils. They are usually caused by heterozygous mutations although mutations in other genes like and have also been reported. Identifying the causative mutation aids in the establishment of diagnosis and rules out other secondary causes of neutropenia like autoimmune cytopenia and evolving aplasia.

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Spontaneous intracranial hypotension (SIH) is an under-diagnosed cause of headache in children and adolescents. SIH results from cerebrospinal fluid (CSF) leak due to breach in the dura mater and the etiology for dural breach is often diverse. We report an adolescent boy who presented with chronic episodic headache that later progressed to daily headache.

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: Haemophilia A is treated by replacement therapy with factor VIII (FVIII) concentrate. This strategy of treatment is ineffective in some patients due to the development of neutralizing antibodies (NNAs) against FVIII. The inhibitors have been identified to act against the functional domains of FVIII.

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