Role of iron deficiency anemia in the propagation of beta thalssemia gene

Abstract

BackgroundThe diagnostic criterion for beta thalassemia trait (BTT) is elevated Hb-A2 levels. Iron deficiency anemia (IDA) reduces the synthesis of Hb-A2, resulting in reduced Hb-A2 levels, so patients with co-pathological conditions BTT with IDA, may have a normal level of Hb-A2. Many socio-economic factors like unawareness, poor diagnostic facilities, and cost of molecular diagnosis (for screening purposes) result in interpretation of these subjects as normal.MethodsVenous blood samples from 200 unmarried females having a family history of thalassemia were collected, and basic hematological parameters, hemoglobin electrophoresis, and molecular analysis for beta thalassemia were done. Patients with IDA and patients with co-pathological conditions BTT and IDA were treated with oral iron. These subjects were then followed for a period of 20 weeks.ResultsOf the 200 females, 34 were found to be anemic. Hemoglobin electrophoresis identified 16 of these patients as BTT. Molecular analysis of all patients confirmed this diagnosis, but identified 8 additional patients with BTT. Eight patients that were not detected with hemoglobin electrophoresis were found to have co-pathology of BTT with IDA.ConclusionPatients with the co-pathological condition BTT with IDA may be interpreted as being normal, as they have normal Hb-A2 levels. These misdiagnosed subjects when marry with BTT have the potential to produce beta thalassemia major in offspring. This is one of the factors playing a major role in the propagation of beta thalassemia gene in Pakistani population, and become a serious hindrance for the thalassemia prevention program in Pakistan.

Hemoglobins, Hemorphins, and 11p15.5 Chromosomal Region in Cancer Biology and İmmunity with Special Emphasis for Brain Tumors

“…80 When it comes to β-thalassemia carriers, many cases are overlooked or misdiagnosed as iron deficiency because both conditions are the most frequent causes of microcytic anemia. 81,82 It is established that iron overload in thalassemia major induces liver cancer, yet very limited studies exist that have analyzed the association of hemoglobinopathies and thalassemia trait with malignancy risk where iron load is not a causal factor. At present, few studies have indicated certain important associations: enhanced rates of hematologic malignancies associated with HB Lepore, 83 enhanced gastric cancer rates in thalassemia trait, 84 significantly higher rates of thalassemia trait in patients with various types of cancer, 85 and high rates of cholangiocarcinoma in association with HB E. 86 Nonetheless, no studies have previously analyzed rates of β-globin mutations in chemorefractory cancers and brain tumors.…”

Comparative analysis of cellulose acetate hemoglobin electrophoresis and high performance liquid chromatography for quantitative determination of hemoglobin A2

“…β-thalassemia major is a fatal disease that develops only when both parents are heterozygous for the β-thalassemia gene (β-thalassemia minor) [ 9 ]. Around 5,000 new β-thalassemia patients are added every year to the existing population of Pakistan [ 13 ].…”

“…To halt the propagation of the β-thalassemia gene in a homozygous state (β-thalassemia major), an extensive prevention program was initiated in Pakistan in 1994, based on increased awareness of thalassemia and improved detection rates for β-thalassemia minor, particularly with respect to prenatal diagnosis. However, despite further technical advancements, the incidence of children born with β-thalassemia major has not reduced [ 9 ].…”

“…The global prevalence of BTT is estimated at around 1.5%; however, it is more common in countries falling in the "thalassemia red belt", which includes North and South Africa, Southern Europe, the Middle East, Southeast Asia, and the Far East [ 8 ]. In the Pakistani population, the prevalence of BTT is reported to be approximately 6% [ 9 ].…”

Iron deficiency anemia interfering the diagnosis of compound heterozygosity for Hb constant spring and Hb Paksé: The first case report

“…IDA is the most common cause of hypochromic microcytic anemia worldwide. Iron deficiency was shown to interfere with the diagnosis of β‐thalassemia trait by reducing the level of HbA 2 to a normal level . In addition, amounts of HbE are substantially reduced when iron deficiency coexists .…”