Related Experiment Video

Updated: Nov 20, 2025

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
07:24

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy

1.8K

Frequency and types of haemoglobinopathies in children with microcytic anaemia

Sabeen Abid Khan1, Sahira Aaraj2, Syeda Namayah Fatima Hussain3

  • 1Department of Pediatrics, Shifa College of Medicine, Shifa international Hospital, Islamabad, Pakistan.

JPMA. the Journal of the Pakistan Medical Association
|January 23, 2021
PubMed

Insights

A significant 18.9% of children with microcytic anaemia had haemoglobinopathies, not iron deficiency. Thalassemia trait was the most common type, highlighting the need for early detection and genetic counselling.

Area of Science:

  • Paediatrics
  • Clinical Genetics
  • Hematology

Background:

  • Microcytic anaemia is common in children.
  • Iron deficiency anaemia is the most frequent cause, but other conditions like haemoglobinopathies can present similarly.
  • Accurate diagnosis is crucial for appropriate management and genetic counselling.

Purpose of the Study:

  • To determine the frequency and types of haemoglobinopathies in children presenting with microcytic anaemia.
  • To differentiate haemoglobinopathies from iron deficiency anaemia in this paediatric population.
  • To emphasize the importance of identifying haemoglobinopathies for clinical and genetic counselling purposes.

Main Methods:

  • A prospective study was conducted at a community health centre in Islamabad, Pakistan.
  • Included were 175 children aged 3 months to 14 years with haemoglobin <10mg/dl and mean corpuscular volume <70fL.
  • Haemoglobin electrophoresis and serum ferritin tests were performed to diagnose haemoglobinopathies and iron deficiency anaemia.

Main Results:

  • Haemoglobinopathies were found in 33 (18.9%) of the 175 subjects.
  • Iron deficiency anaemia accounted for the remaining 142 (81.1%) cases.
  • Thalassemia trait (10.3%) was the most prevalent haemoglobinopathy, followed by thalassemia major (4.6%), thalassemia intermedia (2.9%), and haemoglobin D (1.1%).

Conclusions:

  • The prevalence of haemoglobinopathies among children with microcytic anaemia in this cohort was substantial.
  • Early identification of haemoglobinopathies is vital for effective treatment strategies.
  • Screening for haemoglobinopathies is essential for antenatal diagnosis and future genetic counselling.
Abstract

Keywords:
Haemoglobinopathy, Iron deficiency anaemia, Microcytic, MCV, IDA.

More Related Videos

Measurement of Heme Synthesis Levels in Mammalian Cells09:43

Measurement of Heme Synthesis Levels in Mammalian Cells

Published on: July 9, 2015

12.3K
Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload05:23

Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload

Published on: March 14, 2017

20.0K

Related Concept Videos

Disorders of Erythrocytes01:27

Disorders of Erythrocytes

Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
1.8K
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
36.9K
Blood Types02:20

Blood Types

Human blood is classified into different types based on the presence of antigens on the red blood cell's surface and antibodies in the plasma. Proper identification of blood type is essential for successful blood transfusion. The International Society of Blood Transfusion has identified 38 human blood types based on the surface antigens on the red blood cells. The most common types are ABO, Rh, and MNS blood types.
ABO blood group
ABO antigens are glycoproteins encoded by genes present on...
21.2K
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
89
Factors Affecting Erythropoiesis01:24

Factors Affecting Erythropoiesis

The cardiovascular system regulates the number of erythrocytes in the bloodstream to ensure optimal oxygen transport. It also prevents over-proliferation of these cells, which helps to maintain blood viscosity and flow rate.
Several factors influence the erythrocyte production rate, with tissue oxygen level being among the most critical. Intense exercise or high altitudes can cause tissue hypoxia, which triggers the kidneys to release more erythropoietin (EPO) into the bloodstream.
EPO then...
4.7K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
530