Related Experiment Video

Updated: May 14, 2026

Dried Blood Spots - Preparing and Processing for Use in Immunoassays and in Molecular Techniques
11:28

Dried Blood Spots - Preparing and Processing for Use in Immunoassays and in Molecular Techniques

Published on: March 13, 2015

Misdiagnosis of Hb D-Punjab/β-thalassemia is a potential pitfall in hemoglobinopathy screening programs: a case

Khawla M Belhoul1, Maisam L Bakir, Mahera Abdulrahman

  • 1Dubai Thalassemia Centre, Dubai Health Authority, Dubai, United Arab Emirates. kmbelhowl@dha.gov.ae

Hemoglobin
|February 22, 2013
PubMed

Compound heterozygosity for Hb D-Punjab [β121(GH4)Glu→Gln, GAA>CAA] /β-thalassemia (β-thal) must be carefully differentiated from homozygous Hb D-Punjab in premarital screening. This is essential when the partner is a carrier of β-thal trait. The case of a baby born affected with β-thal major (β-TM), from a marriage between a mother with β-thal trait and a father with Hb D-Punjab/β-thal, is presented. The father had been misdiagnozed as homozygous Hb D-Punjab during premarital screening, even though the screening program utilized complete blood counts and high performance liquid chromatography (HPLC). The factors that may have contributed to this midsiagnosis are presented and discussed. It is recommended that cases of Hb D-Punjab, or any other hemoglobin (Hb) variant appearing as homozygous, are carefully evaluated if microcytic hypochromic parameters not associated with α-thal are present. In all cases of suspected hemizygosis, molecular analysis should always be performed, and in particular if one partner is a β-thal carrier.

More Related Videos

Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies11:59

Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies

Published on: September 6, 2017

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Pulmonary Tuberculosis IV01:26

Pulmonary Tuberculosis IV

Tuberculosis, more commonly referred to as TB, is an infectious disease stemming from Mycobacterium tuberculosis. While it primarily impacts the lungs, TB can also affect other body areas. Given its severity and global impact, timely and accurate diagnosis is crucial for controlling its spread and improving patient outcomes.
Several diagnostic approaches are used to detect TB. The conventional method is the Tuberculin Skin Test (TST), also known as the Mantoux test. However, this method has...
Errors occurring during blood pressure monitoring01:25

Errors occurring during blood pressure monitoring

Blood pressure monitoring is a crucial clinical procedure in diagnosing and managing various cardiovascular conditions. Despite its significance, the accuracy of blood pressure measurements can be compromised by multiple factors, potentially leading to either falsely high or low readings. These inaccuracies are critical as they can significantly impact patient care. So, it is vital to understand these challenges deeply and adopt strategic approaches to minimize errors.
Several factors...
Type II Diabetes Mellitus III: Clinical Manifestations and Diagnosis01:25

Type II Diabetes Mellitus III: Clinical Manifestations and Diagnosis

Type 2 diabetes mellitus develops gradually and is often asymptomatic in early stages.Clinical ManifestationsWhen symptoms appear, they include fatigue, blurred vision, pruritus, delayed wound healing, and recurrent infections, particularly candidal infections. Peripheral neuropathy may present as numbness or tingling in the extremities. Classic hyperglycemia symptoms—polyuria, polydipsia, and polyphagia—are less common. Most patients are overweight and frequently have associated hypertension...
Rh Blood Group01:19

Rh Blood Group

The Rhesus (Rh) antigen is crucial in determining blood groups and ensuring compatibility during blood transfusions.