Red cell indices: differentiation between β-thalassemia trait and iron deficiency anemia and application to sickle cell disease and sickle cell thalassemia

Sahli, Chaima Abdelhafidh; Bibi, Amina; Ouali, Faida; Fredj, Sondess Hadj; Dakhlaoui, B.; Othmani, R.; Laouini, Naouel; Jouini, Latifa; Ouenniche, Fekria; Siala, Hajer; Touhami, Imed; Becher, Mariem; Fattoum, S.; Toumi, N. H.; Messaoud, Taieb

doi:10.1515/cclm-2012-0842

Cited by 17 publications

(9 citation statements)

References 29 publications

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“…Some investigators included also subjects with other types of hemoglobinopathy, like HbE [116,117,125], HbOArab [126] and HbS, both sickle cell thalassemia and sickle cell disease [48,94]. Unfortunately the numbers reported are too small for making a solid conclusion as to the utility of the discriminant indices in these conditions.…”

Section: Thalassemia Typesmentioning

confidence: 99%

“…For example, Mentzer originally published his index with 13 as the cut-off value [3]. Other authors, however, used values between 13 and 14 [20,39,48,62,70], between 14 and 15 [7,34,38,43,55,58,59,65,82,87,93,94,96,101], 15.5 [57], 17 [44,61,92] or even as high as 20 [102], without proper validation. Therefore the effect of a modified cut-off value on an index's performance is difficult to judge and may require further investigations.…”

Section: Cut-off Valuesmentioning

confidence: 99%

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Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia: a meta-analysis

Hoffmann

Urrechaga

Aguirre

2015

Clinical Chemistry and Laboratory Medicine (CCLM)

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Background: More than 40 mathematical indices have been proposed in the hematological literature for discriminating between iron deficiency anemia and thalassemia trait in subjects with microcytic red blood cells (RBCs). None of these discriminant indices is 100% sensitive and specific and also the ranking of the discriminant indices is not consistent. Therefore, we decided to conduct the first meta-analysis of the most frequently used discriminant indices. Methods: An extensive literature search yielded 99 articles dealing with 12 indices that were investigated five or more times. For each discriminant index we calculated the diagnostic odds ratio (DOR) and summary ROC analysis was done for comparing the performance of the indices. Results:The ratio of microcytic to hypochromic RBCs (M/H ratio) showed the best performance, DOR = 100.8. This was significantly higher than that of all other indices investigated. The RBC index scored second (DOR = 47.0), closely followed by the Sirdah index (DOR = 46.7) and the Ehsani index (DOR = 44.7). Subsequently, there was a group of four indices with intermediate and three with lower DOR. The lowest performance (DOR = 6.8) was found for the RDW (Bessman index). Overall, the indices performed better for adults than for children.

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Section: Thalassemia Typesmentioning

confidence: 99%

Section: Cut-off Valuesmentioning

confidence: 99%

Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia: a meta-analysis

Hoffmann

Urrechaga

Aguirre

2015

Clinical Chemistry and Laboratory Medicine (CCLM)

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“…In fact, the value of this parameter increases in parallel with anysocytosis, so that when an elevated RDW is reported on the CBC, a marked anysocytosis is also expected after revision of the peripheral blood smear (Figure 1). The RDW is thus conventionally increased in patients with anemia attributable to iron deficiency, deficit of folic acid and/or vitamin B12, as well as in patients with autoimmune disorders, myelodysplastic syndrome, hemolytic anemia, liver impairment, sickle cell disease and blood transfusions [2]. Recently, however, RDW has found some new, intriguing and appealing applications in human pathology.…”

mentioning

confidence: 99%

Red blood cell distribution width (RDW) and human pathology. One size fits all

Lippi¹,

Plebani

2014

Clinical Chemistry and Laboratory Medicine

161

105

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“…Several molecular studies have established the complete molecular spectrum of β thalassemia and this is very useful in the effective execution of prenatal diagnosis. 29 β thalassemia mutations have been identified during this study period and cd39 C-T and IVS1-110 G-A [2][3][4][5] were the most common mutations in these cases.…”

Section: Introductionmentioning

confidence: 76%

Prenatal Diagnosis of Hemoglobinopathies: A Case Study on Tunisia

Siala¹

2015

J Blood Disord Transfus

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Hemoglobinopathies are the most common genetic disease in Tunisia with a total carrier prevalence of 4.48%, reaching 12.5% at certain affected regions. The β-thalassemia trait frequency is 2.21% and the sickle cell trait is 1.89%. A prenatal diagnosis (PND) unit has been progressively installed since 1986 at the biochemistry and molecular biology department of children's hospital of Tunis. The present study tries to explore the prenatal diagnosis of the Hemoglobinopathies in Tunisia for the period of 1994-2012 and tries to share its experiences and the progress achieved in overcoming this challenge. 340 out of 461 fetuses examined for this study were at risk and couples that have agreed for pre-diagnosis have benefited a lot in averting the major health risks like beta-thalassemia (41%), sickle cell anemia (40.3%), S/beta-thal (14.7%) and the remaining fetuses were at risk for a compound heterozygote hemoglobinopathies (S/O, O/beta-thal, S/C). 25.8% of the couple covered in this study have voluntarily asked for PND several times, as they were worried about giving birth to a child with Hemoglobinopathy. Fetal DNA was collected from chorionic villis biopsy of 53 cases, amniotic fluid samples are considered in 397 cases and CVS was followed in 7 cases for lack of results. Out of 461 tested foetuses, 26.2% of them were affected, 50.5% were carriers of the disease and 19.3% were completely healthy. PND fail to detect the problem in 3.9% of the cases. Except 13% of the affected fetuses, the entire number of cases detected with defected fetuses had been aborted. Although abortion is legal in Tunisia, 13% of pregnant women with affected fetus have refuted to abortion due to religious reasons. The total number of fetus aborted remained 1.53%. Although PND was successful in our lab, it was insufficient to cover the entire Tunisian territory. The researchers hence recommend to the health authorities to establish widespread PND services in places that are worst affected with these cases in Tunisia to prevent hemoglobinopathies

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Red cell indices: differentiation between β-thalassemia trait and iron deficiency anemia and application to sickle cell disease and sickle cell thalassemia

Abstract: The effectiveness and the simplicity of calculation of these indices make them acceptable and easy to use. They can be relied on for differential diagnosis and even for diagnosis of β-TT with atypical HbA₂ levels.

Cited by 17 publications

References 29 publications

Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia: a meta-analysis

Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia: a meta-analysis

Red blood cell distribution width (RDW) and human pathology. One size fits all

Prenatal Diagnosis of Hemoglobinopathies: A Case Study on Tunisia

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