Alpha globin chain variants per se do not cause severe morbidity and mortality but can modify - usually ameliorate - the clinical manifestations of beta globin chain variants when co-inherited with the latter. They also pose challenges in interpretation of high-performance liquid chromatography histograms and require molecular analysis for proper characterization. Hemoglobin (Hb) Fontainebleau is a rare alpha globin chain variant [alpha 21(B2) Ala→Pro], of which only three families have been reported from India in the past. Here, we describe a case of Hb fontainebleau detected in heterozygous condition in a 19-year-old primigravida. Her husband was found to have a double heterozygous state for HbQ India and beta-thalassemia trait. This opens up the possibility of multiple combinations of hemoglobinopathies in the offspring.

Download full-text PDF

Source
http://dx.doi.org/10.4103/IJPM.IJPM_218_18DOI Listing

Publication Analysis

Top Keywords

globin chain
16
alpha globin
12
rare alpha
8
chain variant
8
chain variants
8
globin
5
diagnostic challenges
4
challenges posed
4
posed rare
4
chain
4

Similar Publications

Dual α-globin-truncated erythropoietin receptor knockin restores hemoglobin production in α-thalassemia-derived erythroid cells.

Cell Rep

January 2025

Department of Surgery, University of California, San Francisco, San Francisco, CA 94143, USA; Eli & Edythe Broad Center for Regeneration Medicine, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Bioengineering & Therapeutic Sciences, University of California, San Francisco, San Francisco, CA 94158, USA. Electronic address:

The most severe form of α-thalassemia results from loss of all four copies of α-globin. Postnatally, patients face challenges similar to β-thalassemia, including severe anemia and erythrotoxicity due to the imbalance of β-globin and α-globin chains. Despite progress in genome editing treatments for β-thalassemia, there is no analogous curative option for α-thalassemia.

View Article and Find Full Text PDF
Article Synopsis
  • Thalassemia, particularly beta-thalassemia major, is a hereditary anemia marked by insufficient beta-globin chain production, leading to iron overload from frequent blood transfusions, with significant health complications like endocrinopathies.
  • The study focused on children aged 6 months to 14 years, examining growth and endocrine function in relation to serum ferritin levels, which indicate iron overload.
  • Results revealed a high prevalence of endocrinopathy, with short stature being the most commonly observed issue, particularly among boys and younger children.
View Article and Find Full Text PDF

Reproductive Health in Women with Major β-Thalassemia: Evaluating Ovarian Reserve and Endocrine Complications.

Metabolites

December 2024

IVF Unit, Department of Obstetrics and Gynecology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, Greece.

Thalassemia is an autosomal recessive hereditary chronic hemolytic anemia characterized by a partial or complete deficiency in the synthesis of alpha- or beta-globin chains, which are essential components of adult hemoglobin. Mutations in the globin genes lead to the production of unstable globin chains that precipitate within cells, causing hemolysis. This shortens the lifespan of mature red blood cells (RBCs) and results in the premature destruction of RBC precursors in the bone marrow.

View Article and Find Full Text PDF

Background: Thalassemia is a hemoglobinopathy-associated genetic disease resulting due to defective synthesis of globin chains, causing defects in the skeletal and oral structures.

Aim: This cross-sectional study was designed to analyze the prevalence of dental caries, oral health status, malocclusion status, and dental treatment needs in thalassemic children.

Materials And Methods: Institutional Ethical committee clearance was obtained before starting the study.

View Article and Find Full Text PDF

Pediatric case of hemoglobin I-high Wycombe variant.

Clin Chim Acta

December 2024

Department of Pathology & Immunology, Baylor College of Medicine, USA; Department of Pathology, Texas Children's Hospital, Houston, TX, USA. Electronic address:

Over 1400 variants of hemoglobin (Hb) have been identified and characterized with phenotypes ranging from clinically silent to severe clinical manifestations in carriers. Different analytical methods have been established to detect Hb variants. Here, we report the first pediatric case of hemoglobin I-High Wycombe [β59(E3) Lys → Glu] variant found in an infant of Mexican-American descent.

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!