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DIFFERENTIATION OF IRON DEFICIENCY ANEMIA AND THALESSEMIA TRAIT IN CHILDREN WITH MICROCYTIC HYPOCHROMIC ANEMIA
Author(s): ,
Gonul Aydogan
Affiliations:
Pediatric Hematology,KANUNI SULTAN SULEYMAN EDUCATION AND RESEARCH HOSPITAL,Istanbul,Turkey
,
Salim Keskin
Affiliations:
Pediatric Hematology,KANUNI SULTAN SULEYMAN EDUCATION AND RESEARCH HOSPITAL,Istanbul,Turkey
,
Nihal Ozdemir
Affiliations:
Pediatric Hematology,KANUNI SULTAN SULEYMAN EDUCATION AND RESEARCH HOSPITAL,Istanbul,Turkey
,
Ferhan Akici
Affiliations:
Pediatric Hematology,KANUNI SULTAN SULEYMAN EDUCATION AND RESEARCH HOSPITAL,Istanbul,Turkey
,
Zafer Salcioglu
Affiliations:
Pediatric Hematology,KANUNI SULTAN SULEYMAN EDUCATION AND RESEARCH HOSPITAL,Istanbul,Turkey
,
Cengiz Bayram
Affiliations:
Pediatric Hematology,KANUNI SULTAN SULEYMAN EDUCATION AND RESEARCH HOSPITAL,Istanbul,Turkey
,
Ezgi Pasli
Affiliations:
Pediatric Hematology,KANUNI SULTAN SULEYMAN EDUCATION AND RESEARCH HOSPITAL,Istanbul,Turkey
,
Ebru Yilmaz
Affiliations:
Pediatric Hematology,KANUNI SULTAN SULEYMAN EDUCATION AND RESEARCH HOSPITAL,Istanbul,Turkey
,
Ali Aycicek
Affiliations:
Pediatric Hematology,KANUNI SULTAN SULEYMAN EDUCATION AND RESEARCH HOSPITAL,Istanbul,Turkey
,
Tuba Nur Tahtakesen
Affiliations:
Pediatric Hematology,KANUNI SULTAN SULEYMAN EDUCATION AND RESEARCH HOSPITAL,Istanbul,Turkey
Gizem Ersoy
Affiliations:
Pediatric Hematology,KANUNI SULTAN SULEYMAN EDUCATION AND RESEARCH HOSPITAL,Istanbul,Turkey
(Abstract release date: 05/17/18) EHA Library. AYDOGAN G. 06/14/18; 216773; PB2070
Dr. Gonul AYDOGAN
Dr. Gonul AYDOGAN
Contributions
Abstract

Abstract: PB2070

Type: Publication Only

Background

Microcytic anemia is defined as anemia with a low mean corpuscular volume (MCV) for age, race, and sex. The most common causes of microcytic anemia in children are iron deficiency and thalassemia. Iron deficiency and thalassemia are characterized by decreased hemoglobin production, due to insufficient availability of heme or globin, respectively and both cause hypochromic microcytic anemia. Iron deficiency is frequently seen in parts of the world where nutrition is inadequate and the socioecomic status is low. Thalassemias are common in the Mediterranean region. Thalassemia trait may be identified as an incidental finding. Differentiation and detection of coexistence is essential for genetic counselling and to set a treatment plan on the basis of etiology.

Aims

The aim of the study was to characterise the frequency of iron deficiency anemia (IDA) and thalassemia trait among children who presented with microcytic anemia in our pediatric hematology clinic.

Methods

Data were available for 200 children (6 months-18 years) attending the outpatient pediatric hematology clinic between August 2013-July 2014. Screening for iron deficiency was done by analysing serum ferritin, iron and iron binding capasity. Haemoglobin variants were diagnosed by HPLC or capillary electrophoresis and molecular methods.

Results

Of the 200 enrolled, 93 were female (46.5%) and 107 were male (53.5%). Fifty-three children were <2 years of age (26.5%), 52 (26%) between 2-4 years, 56 (28%) between 5-11 years  and 39 (19.5%) were >12 years old. One-hundred-fiftyfour had IDA (77%), 27 had thalassemia trait (13.5%), and in 11 both conditions co-existed. Eight of the thalassemia trait patients were found to have an alpha-thallesemia gene mutation, in 3 of these there was also IDA. RBC, MCV, Mentzer index (MI), serum iron, total iron binding capacity, ferritin were significantly different between IDA and thalassemia trait patients (p<0.001) however RDW was not different between the 2 groups (p>0.05). Sensitivity and specifity of MI for detection of thalassemia trait 100% and 69.4% respectively. The positive and negative predictive values of MI in diagnosing thalassemia trait were 36.6 and 100%. In patients with co-existing IDA and thalassemia trait; MI had a sensitivity of 90.9%, specifity of 69.4%, pozitive predictive value of 17.5% and a negative predictor value of 99.7%. 

Conclusion

The differentiation between βTT and IDA, requires Hb A2 estimation by Hb electrophoresis, examination of a peripheral blood film, serum ferritin, iron, TIBC, and transferrin saturation. The requirement of simple distinguishing parameters between IDA and thalassemia trait in a child presenting with hypochromic microcytic is needed as several studies have shown the effect of coexistence of IDA on HbA2 synthesis resulting in confusing levels of HbA2 in thalessemia. Hemoglobin electrophoresis is also not helpful in patients with alpha- thalassemia trait. 

Session topic: 30. Iron metabolism, deficiency and overload

Keyword(s): Iron deficiency anemia, Thalassemia

Abstract: PB2070

Type: Publication Only

Background

Microcytic anemia is defined as anemia with a low mean corpuscular volume (MCV) for age, race, and sex. The most common causes of microcytic anemia in children are iron deficiency and thalassemia. Iron deficiency and thalassemia are characterized by decreased hemoglobin production, due to insufficient availability of heme or globin, respectively and both cause hypochromic microcytic anemia. Iron deficiency is frequently seen in parts of the world where nutrition is inadequate and the socioecomic status is low. Thalassemias are common in the Mediterranean region. Thalassemia trait may be identified as an incidental finding. Differentiation and detection of coexistence is essential for genetic counselling and to set a treatment plan on the basis of etiology.

Aims

The aim of the study was to characterise the frequency of iron deficiency anemia (IDA) and thalassemia trait among children who presented with microcytic anemia in our pediatric hematology clinic.

Methods

Data were available for 200 children (6 months-18 years) attending the outpatient pediatric hematology clinic between August 2013-July 2014. Screening for iron deficiency was done by analysing serum ferritin, iron and iron binding capasity. Haemoglobin variants were diagnosed by HPLC or capillary electrophoresis and molecular methods.

Results

Of the 200 enrolled, 93 were female (46.5%) and 107 were male (53.5%). Fifty-three children were <2 years of age (26.5%), 52 (26%) between 2-4 years, 56 (28%) between 5-11 years  and 39 (19.5%) were >12 years old. One-hundred-fiftyfour had IDA (77%), 27 had thalassemia trait (13.5%), and in 11 both conditions co-existed. Eight of the thalassemia trait patients were found to have an alpha-thallesemia gene mutation, in 3 of these there was also IDA. RBC, MCV, Mentzer index (MI), serum iron, total iron binding capacity, ferritin were significantly different between IDA and thalassemia trait patients (p<0.001) however RDW was not different between the 2 groups (p>0.05). Sensitivity and specifity of MI for detection of thalassemia trait 100% and 69.4% respectively. The positive and negative predictive values of MI in diagnosing thalassemia trait were 36.6 and 100%. In patients with co-existing IDA and thalassemia trait; MI had a sensitivity of 90.9%, specifity of 69.4%, pozitive predictive value of 17.5% and a negative predictor value of 99.7%. 

Conclusion

The differentiation between βTT and IDA, requires Hb A2 estimation by Hb electrophoresis, examination of a peripheral blood film, serum ferritin, iron, TIBC, and transferrin saturation. The requirement of simple distinguishing parameters between IDA and thalassemia trait in a child presenting with hypochromic microcytic is needed as several studies have shown the effect of coexistence of IDA on HbA2 synthesis resulting in confusing levels of HbA2 in thalessemia. Hemoglobin electrophoresis is also not helpful in patients with alpha- thalassemia trait. 

Session topic: 30. Iron metabolism, deficiency and overload

Keyword(s): Iron deficiency anemia, Thalassemia

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