CONTEXT:Hemoglobinopathies constitute the world's most common genetically inherited red blood cell disorder. Screening and accurate identification of hemoglobin (Hb) variants have become increasingly important in antenatal diagnosis and prevention of Hb disorders.AIM:The aim of this study was to screen and identify Hb fractions prevalent in the Central Reference Laboratory of India.MATERIALS AND METHODS:A total of 65,779 cases were screened for hemoglobinopathies on the bio-rad variant high-performance liquid chromatography (HPLC) system by beta-thalassemia short program. The retention times, proportion of the hemoglobin (%) and the peak characteristics for all hemoglobin fractions were recorded. Molecular analysis of the beta-globin gene was carried out by DNA sequencing on eight cases.RESULTS:Total number of abnormal Hb fractions on cation exchange-HPLC (CE-HPLC) was seen in 12,131 (18.44%) cases. Beta-thalassemia trait was the predominant genetic Hb disorder accounting for 7377 cases (11.21%) of the total cases. This was followed by sickle cell trait (2.01%), sickle cell disease (1.59%), beta-thalassemia syndrome (0.80%), HbE trait (0.79%), and borderline HbA2 (0.51%). Molecular characterization of eight rare cases of hemoglobin variants by beta-globin gene sequencing identified three cases of Hb Beth Israel, two cases of Hb Hofu trait, and one case each of Hb J Cambridge, Hb Mizunami, and Hb Sherwood Forest.CONCLUSION:Superior resolution, rapid assay time, and accurate quantification make CE-HPLC suitable for the routine investigation of hemoglobinopathies.
The supramitral ring is a rare congenital malformation formed by presence of a ridge of connective tissue, usually attached at or above the mitral annulus. The incidence and clinical presentation is highly variable due to difficulty in diagnosis. A review of autopsied congenital heart diseases at our institute over a 17-year-period revealed 24 cases of supramitral ring. These were classified with respect to the morphology of the ridge and the presence of associated cardiac lesions. The ring was found in 1.5% of the autopsied specimens of congenitally malformed hearts, and in 37.5% of those with obstructed left-sided inflow tracts. The majority of the specimens came from children (79.2%). A clinical diagnosis had been made in only two. In one-third of the cases, the ring was associated with incomplete Shone's complex. Varied anomalies were seen in others, chiefly ventricular septal defects. An interesting association was the presence of rheumatic mitral valvar disease, found in 3 cases. There was no difference in the completeness or width of the supramitral ridge in the hearts from those with or without Shone's complex. Circumferential rings were fleshy and stenosing, while incomplete rings had variable locations and stenosis. The presence of a supramitral ring may be underestimated due to association with other cardiac anomalies, both congenital and acquired. Since the ridge need not always produce stenosis, the correct designation would be simply a supramitral ring.
In recent years, immunological barriers historically considered as absolute contraindications to transplantation are being reevaluated. One such barrier is the ABO blood group incompatibility. With better understanding of immunological mechanisms and effective various regimens for controlling it, ABO-incompatible (ABO-I) kidney transplantation is now being performed with increasing frequency. For good outcome, most important is to achieve and maintain low anti-blood group antibody titers (ABGATs). Twenty-two patients with ABO-I donors have been studied. The anti-A and anti-B antibody titers (IgG and IgM) were estimated by column agglutination technology using Automated Ortho BioVue System. For desensitization, pretransplant plasmapheresis and/or immunoadsorption and rituximab were used. ABGAT was determined before transplant and periodically after transplant. It was observed that one-third of the patients have low baseline ABGAT. In these cases with low ABGAT, transplant can be performed without any desensitization. In those with titers <1:256, rituximab (two doses of 200 mg weekly) and 3–6 sessions of plasmapheresis can bring down titers to <1:32. In those with titers >1:256, immunoadsorption may be used from the beginning to reduce ABGAT. After transplant, the titers drop to <1:8 in majority. Rise in titers to >1:64 require close observation and biopsy. If there is evidence of antibody-mediated rejection, treatment should be promptly started. Rise in titers 4–6 weeks after transplant is not associated with any graft dysfunction, and hence not of any clinical significance.
We recommend DNA typing as a complementary tool along with flow cytometry to accomplish successful HLA-B27 phenotype determination. This is the first study among Indian population to evaluate efficacy of EUROArray to detect B27 allele and its potential to indicate the presence of nondisease-associated alleles in Indian population.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.