Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
Indian Journal of Hematology and Blood Transfusion
Published in: Indian Journal of Hematology and Blood Transfusion 1/2014

01-09-2014 | Case Report

Compound Heterozygous Hemoglobin D-Punjab/Hemoglobin D-Iran: A Novel Hemoglobinopathy

Authors: Aastha Gupta, Amrita Saraf, Jasmita Dass, Meenal Mehta, Nita Radhakrishnan, Renu Saxena, Manorama Bhargava

Published in: Indian Journal of Hematology and Blood Transfusion | Special Issue 1/2014

Login to get access

Abstract

Cation exchange high performance liquid chromatography (CE- HPLC) is an excellent tool for the diagnosis of various hemoglobin (Hb) disorders. HbD-Punjab is an uncommon structural Hb variant seen in North-India. Rarely, a compound heterozygous state for HbD-Punjab with high HbA2 has been described. We describe an index case whose CE-HPLC showed a compound heterozygous state for Hb-Punjab/HbD-Iran which was confirmed by family study, acid and alkaline electrophoresis and beta gene sequencing. This case highlights the role of alkaline and acid electrophoresis to resolve common peaks that elute with HbA2 on CE-HPLC. To the best of our knowledge, this compound heterozygous state of HbD-Punjab with HbD-Iran has not been reported earlier.
Literature
1.
Pauling L, Itano HA, Singer SJ, Wells K (1949) Sickle cell anemia: a molecular disease. Science 110:543–548PubMedCrossRef
2.
Higgins T, Sachnabl K, Savoy M, Rowe P, Flamini M, Bananda S (2012) A novel double heterozygous, HbD Punjab/HbQ India, hemoglobinopathy. Clin Biochem 45:264–266PubMedCrossRef
3.
Sachdev R, Dam AR, Tyagi G (2010) Detection of Hb variants and haemoglobinopathies in Indian population using HPLC: report of 2,600 cases. Indian J Pathol Microbiol 53:57–62PubMedCrossRef
4.
Srinivas U, Pati HP, Saxena R (2010) Hemoglobin D-Punjab syndromes in India: a single center experience on cation-exchange high performance liquid chromatography. Hematology 15:178–181PubMedCrossRef
5.
Bain BJ (2006) Hemoglobinopathy diagnosis. Blackwell Publishing, MassachusettsCrossRef
6.
Serjeant B, Myerscough E, Serjeant GR, Higgs DR, Moo-Penn WF (1982) Sickle cell-Hemoglobin D-Iran: a benign sickle cell syndrome. Hemoglobin 6:57–59PubMedCrossRef
7.
Higgs DR, Thein SL, Wood WG (2001) Human haemoglobin. In: Weatherall DJ, Clegg JB (eds) The thalassaemia syndromes, 4th edn. Blackwell Science Ltd, Oxford, pp 65–120
8.
Joutovsky A, Hadzi-Nesic J, MiNardi MA (2004) HPLC retention time as a diagnostic tool for hemoglobin variants and hemoglobinopathies: a study of 60,000 samples in a clinical diagnostic laboratory. Clin Chem 50:1736–1747PubMedCrossRef
9.
Gibbons R, Higgs DR, Olivieri NF, Wood WG (2001) Clinical features of the thalassaemias. In: Weatherall DJ, Clegg JB (eds) The thalassaemia syndromes, 4th edn. Blackwell Science Ltd, Oxford, pp 357–392
Metadata
Title
Compound Heterozygous Hemoglobin D-Punjab/Hemoglobin D-Iran: A Novel Hemoglobinopathy
Authors
Aastha Gupta
Amrita Saraf
Jasmita Dass
Meenal Mehta
Nita Radhakrishnan
Renu Saxena
Manorama Bhargava
Publication date
01-09-2014
Publisher
Springer India
Published in
Indian Journal of Hematology and Blood Transfusion / Issue Special Issue 1/2014
Print ISSN: 0971-4502
Electronic ISSN: 0974-0449
DOI
https://doi.org/10.1007/s12288-014-0441-x

Other articles of this Special Issue 1/2014

Indian Journal of Hematology and Blood Transfusion 1/2014 Go to the issue

Case Report

Granulocyte Colony Stimulating Factor Induced Sweet’s Syndrome Following Autologous Transplantation in a Child with Relapsed Acute Myeloblastic Leukemia

Case Report

Discrepancy in Optical & Mechanical Method in Coagulation Tests in a Turbid Sample

Case Report

Chediak-Higashi Syndrome in Accelerated Phase: A Rare Case Report with Review of Literature

Case Report

Hyperleukocytosis in Newborn: A Diagnosis of Concern

Case Report

A Paroxysmal Nocturnal Haemoglobinuria Progress with Waldenström Macroglobulinemia Along with T Cell Monoclonal Expansion

Case Report

Celiac Disease with Pure Red Cell Aplasia: An Unusual Hematologic Association in Pediatric Age Group
Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Watch now

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras
Prof. Fabrice Barlesi
Developed by: Springer Medicine
Image Credits