We have developed a murine monoclonal antibody (mAb) specific for the delta chain of hemoglobin (Hb) A2 that does not cross-react with alpha, beta, or gamma chains. The mAb reacted with Hb P-Nilotic (beta delta hybrid), but not with Hb Lepore-Boston (delta beta hybrid), indicating an epitope consisting of positions 116 (Arg) and 117 (Asn) or 125 (Gln) and 126 (Met) of the delta chain. By using this antibody, we have established a simple and rapid enzyme-linked immunosorbent assay (ELISA) for the detection and quantification of Hb A2 in adult, cord, and fetal hemolysates. We analyzed 70 adult, 8 newborn, and 19 fetal hemolysates from normal subjects and those with various hemoglobinopathies. The mean percentage of Hb A2 was 2.5 for normal adults, 5.4 for beta thalassemic (beta thal) heterozygotes, and less than 0.1% in beta thal fetal samples. We were able to distinguish and characterize certain phenotypes of beta thal patients such as beta thal heterozygotes, beta 0 thal homozygotes, and C beta 0 thal, and C beta + thal double heterozygotes with the aid of this and other mAbs we have generated. This technique is a valuable addition to current methods for the diagnosis of beta thal based on quantification of Hb A2.

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajh.2830380311DOI Listing

Publication Analysis

Top Keywords

beta thal
32
beta
13
delta chain
12
monoclonal antibody
8
specific delta
8
chain hemoglobin
8
diagnosis beta
8
fetal hemolysates
8
thal
8
thal heterozygotes
8

Similar Publications

The association of seizure control with neuropathology in dementia.

Brain

January 2025

Comprehensive Epilepsy Program, Department of Neurology, University of Virginia, Charlottesville, Virginia 22908, USA.

Seizures in people with dementia (PWD) are associated with faster cognitive decline and worse clinical outcomes. However, the relationship between ongoing seizure activity and postmortem neuropathology in PWD remains unexplored. We compared post-mortem findings in PWD with active, remote, and no seizures using multicentre data from 39 Alzheimer's Disease Centres from 2005 to 2021.

View Article and Find Full Text PDF

Background: This study aimed to evaluate the efficacy of third-generation sequencing (TGS) and a thalassemia (Thal) gene diagnostic kit in identifying Thal gene mutations.

Methods: Blood samples (n = 119) with positive hematology screening results were tested using polymerase chain reaction (PCR)-based methods and TGS on the PacBio-Sequel-II-platform, respectively.

Results: Out of the 119 cases, 106 cases showed fully consistent results between the two methods, with TGS identified HBA1/2 and HBB gene mutations in 82 individuals.

View Article and Find Full Text PDF

: Cellular biobanks are of great interest for performing studies finalized in the development of personalized approaches for genetic diseases, including β-thalassemia and sickle cell disease (SCD), important diseases affecting the hematopoietic system. These inherited genetic diseases are characterized by a global distribution and the need for intensive health care. The aim of this report is to present an update on the composition of a cellular Thal-Biobank, to describe its utilization since 2016, to present data on its application in studies on fetal hemoglobin induction and on gene editing, and to discuss its employment as a "unique tool" during and after the COVID-19 pandemic.

View Article and Find Full Text PDF

Medical Histories Associated With Absence of Alzheimer Disease Neuropathologic Changes in the Oldest-Old: The 90+ Study.

Neurology

January 2025

From the Departments of Neurology (S.L., R.R., A.P.-H., M.M.C., C.K.) and Epidemiology and Biostatistics (M.M.C.), and the Institute for Memory Impairments and Neurological Disorders (Z.A.-D., M.M.C., C.K.), University of California, Irvine; Department of Epidemiology and Biostatistics, Temple University College of Public Health, Philadelphia, PA; and Pathology (T.J.M.), Stanford University, CA.

Objectives: Exploration of medical histories and medications associated with Alzheimer disease neuropathologic change (ADNC) absence and potential resistance may identify protective factors against ADNC. This was a retrospective examination of data from participants age ≥90 years who enrolled in , a longitudinal study based in California. Participants underwent neuropathologic analysis for the presence of neuritic amyloid plaques (NPs) (any), beta amyloid plaques (Thal phase > 0), and neurofibrillary tangles (>2).

View Article and Find Full Text PDF

Identification of isoAsp7-Aβ as a major Aβ variant in Alzheimer's disease, dementia with Lewy bodies and vascular dementia.

Acta Neuropathol

December 2024

Paul Flechsig Institute - Centre of Neuropathology and Brain Research, University of Leipzig, Liebigstraße 19, 04103, Leipzig, Germany.

Article Synopsis
  • - The study investigated the role of various post-translational modifications of amyloid-β (Aβ) in different types of dementia, highlighting how specific Aβ variants could characterize distinct dementia forms, including Alzheimer's disease (AD) and other dementias like Lewy body dementia and vascular dementia.
  • - Researchers analyzed post-mortem brain tissues using immunohistochemical techniques and machine learning to quantify various Aβ modifications, finding that AD tissues had the highest levels of Aβ variants compared to other conditions.
  • - Notably, the isoAsp7-Aβ variant was found abundantly across all dementia types, while other modifications displayed varying distributions in plaque types and cerebral blood vessels, with some variants detected intraneuronally rather
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!