Multi-criteria decision making to validate performance of RBC-based formulae to screen [Formula: see text]-thalassemia trait in heterogeneous haemoglobinopathies.

Background: India has the most significant number of children with thalassemia major worldwide, and about 10,000-15,000 children with the disease are born yearly. Scaling up e-health initiatives in rural areas using a cost-effective digital tool to provide healthcare access for all sections of people remains a challenge for government or semi-governmental institutions and agencies.

Methods: We compared the performance of a recently developed formula SCS[Formula: see text] and its web application SUSOKA with 42 discrimination formulae presently available in the literature.

Prognostic significance of extramedullary disease (EMD) detected on pre-transplant F-FDG PET/CT in patients with multiple myeloma: Results of PIPET-M trial.

Background: It is difficult to prognosticate the post-Autologous Stem Cell Transplant (ASCT) responses in multiple myeloma (MM) with the currently available prognostication models. F-FDGPET/CT has numerous advantages to prognosticate the post-transplant responses by assessing extramedullary disease (EMD) in addition to the extent of active disease. We aimed at identifying the prognostic value of EMD in predicting progression-free survival (PFS) and overall survival (OS).

Hematological and genetic profiles of persons with co-inherited heterozygous β-thalassemia and supernumerary α-globin genes.

Introduction: Thalassemias are common monogenic autosomal recessive hemoglobin disorders. The usually asymptomatic heterozygotes (β-thalassemia traits, βTT) may rarely develop non-transfusion-dependent-thalassemia (NTDT) due to co-inheritance of supernumerary α-globin genes. Literature on phenotypic/genotypic features of these rare combinations is limited.

Hematological characteristics, cytogenetic features, and post-induction measurable residual disease in thymic stromal lymphopoietin receptor (TSLPR) overexpressed B-cell acute lymphoblastic leukemia in an Indian cohort.

The overexpression of cytokine receptor-like factor-2 (CRLF2) identified by anti-thymic stromal lymphopoietin receptor/TSLPR flow cytometry (FCM) has been reported as a screening tool for the identification of BCR-ABL1-like B-cell acute lymphoblastic leukemia/B-ALL with CRLF2 re-arrangement. TSLPR expression was studied prospectively in consecutive 478 B-ALLs (≤ 12 years (n = 244); 13-25 years (n = 129); > 25 years (n = 105)) and correlated with various hematological parameters and end-of-induction measurable residual disease (day 29; MRD ≥ 0.01% by 10-color FCM).

Evaluation of a flow cytometric test for G6PD-deficient erythrocytes.

Objective: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked recessive disorder, is the commonest erythrocytic enzymopathy worldwide. Reliable diagnosis and severity prediction in G6PD-deficient/heterozygous females remain challenging. A recently developed flow cytometric test for G6PD deficiency has shown promise in precisely identifying deficient females.

A high frequency of Gilbert syndrome (UGT1A1*28/*28) and associated hyperbilirubinemia but not cholelithiasis in adolescent and adult north Indian patients with transfusion-dependent β-thalassemia.

Hyperbilirubinemia and pigment gallstones are frequent complications in transfusion-dependent β-thalassemia (TDβT) patients. Bilirubin production and clearance are determined by genetic as well as environmental variables like ineffective erythropoiesis, hemolysis, infection-induced hepatic injury, and drug- or iron-related toxicities. We studied the frequency of the Gilbert syndrome (GS), a common hereditary cause of hyperbilirubinemia in 102 TDβT patients aged 13-43 years (median 26 years).

Missing Hb Q-India Peak in a Triple-Heterozygous Patient with Hb D-Punjab/Hb Q-India/β-Thalassemia Trait.

Interpretation of variant hemoglobins (Hbs) can pose challenges. We describe a puzzling case with multiple variant Hb peaks that was solved by family studies. A 32-year-old female with anemia and jaundice underwent cation exchange high performance liquid chromatography (HPLC), which revealed near-absence of Hb A along with variant peaks in the D- and C-windows (78.

18F-FDG PET/CT in Graft Versus Host Disease-Associated Polymyositis.

Graft versus host disease (GVHD) is the most frequent and serious complication of allogenic hematopoietic stem cell transplant. Polymyositis is a rare neuromuscular manifestation of GVHD, which often responds well to corticosteroid and immunosuppression therapy. We present a case of a 38-year-old man with a known case of mixed-phenotype acute leukemia after hematopoietic stem cell transplant presenting with GVHD-associated polymyositis.

Anomaly of iliac veins: a rare cause of transient hepatic attenuation difference in a child.

We report a case of transient hepatic attenuation difference (THAD) in a child caused by iliac vein anomaly. Iliac vein anomaly as a cause for THAD in a child is extremely rare.