Frequency and types of hemoglobinopathies in children with microcytic anemia

Author(s):  
Sabeen Khan ◽  
Sahira Aaraj ◽  
Syeda Namayah Fatima Hussain

Abstract Objective: To study the frequency and types of haemoglobinopathies in children with microcytic anaemia. Method: The prospective study was conducted at the Paediatric Out-patient Department of Shifa Falahi Community Health Centre, Islamabad, Pakistan, from July to December, 2018, and comprised patients aged from 3 months to 14 years who had haemoglobin <10mg/dl and mean corpuscular volume <70fL. Serum ferritin and haemoglobin electrophoresis were done to check for iron deficiency anemia and haemoglobinopathies. Data was analysed using SPSS 23. Results: Of 175 subjects, 33(18.9%) had haemoglobinopathies and 142(81.1%) had iron deficiency anaemia. Thalassemia trait 18(10.3%) was the leading cause amongst haemoglobinopathies, followed by thalassemia major 8(4.6 %) and intermedia 5(2.9%). There were 2(1.1%) patients with haemoglobin D. Conclusion: The prevalence of hemoglobinopathies was high. Identification of haemoglobinopathies is important for proper treatment, antenatal screening and future genetic counselling. Key Words: Haemoglobinopathy, Iron deficiency anaemia, Microcytic, MCV, IDA.

Author(s):  
Pravin M. Meshram ◽  
Hemant R. Kokandakar ◽  
Rajan S. Bindu

Background: Iron deficiency anemia (IDA) and beta thalassaemia trait (BTT) are two of the most common causes of microcytic anemia.It is essential to differentiate between the two, so as to avoid unnecessary iron therapy which is contraindicated in beta thalassaemia .We retrospectively evaluated the reliability of various indices for differential diagnosis of microcytosis and 𝛽-TT in the same patient groups .Methods: A total of 200 patients were evaluated. We calculated 6 discrimination indices in all patients with anemia or suspected beta thalassemia. None of the subjects had  combined  IDA and 𝛽-TT. The patient groups were evaluated according to  the Mentzer, Shine and Lal, England and Fraser,Srivastava, Green and King, Ricerca.Results: According to percentage correctly diagnosed criteria, Ricerca  and Mentzer  index are considered as the two best discrimination indices in differentiation between β thalassemia trait  and iron deficiency anaemia .Youden’s index showed the following ranking with respect to the indices’ ability to distinguish between 𝛽-TT and IDA, Ricerca index >  Mentzer index > Green and King index >  Srivastava index >  Shine and Lal index > England and Fraser index.Conclusions: Ricerca  and Mentzer  index are considered as the two best discrimination indices in differentiation between β thalassemia trait  and iron deficiency anaemia.Keywords: Iron deficiency anemia (IDA) and beta thalassaemia trait (𝛽-TT) 


2021 ◽  
pp. 144-146
Author(s):  
Mansi Davda ◽  
Sachin Patel ◽  
Kinalee Chothani ◽  
Jigna Upadhyay

The most commonly encountered disorders with microcytic anemia are iron deficiency anemia (IDA) and β-thalassemia trait (BTT).It is important to distinguish between IDA and BTT to avoid unnecessary iron therapy and the development of hemosiderosis.Various parameters obtained on automated haematology analyser by calculating discriminant functions have been helpful to differentiate iron deficiency anemia and β-thalassemia trait. Materials and Methods: This study was carried out in the pathology department of Gujarat Adani Institute Of Medical Science.We had studied 100 cases of differentiating Iron deficiency anaemia and β-Thalassaemia trait from patient's case records and laboratory reports irrespective of age and sex over a period of one year (January 2020 to December 2020).Tests for serum iron and ferritin were carried out in individuals showing low hemoglobin (Hb). All the selected subjects' samples were subjected to blood morphology, comparison of mean cell volume (MCV), RBC count, red cell distribution width (RDW), Red cell distribution width Index (RDWI),Srivastav Index(SI),Green and king Index (GI) and Mentzer's Index(MI). Results: Out of 100 cases seventy five were diagnosed having iron deficiency anaemia, whereas twenty five were having βthalassemia trait. The RBC count was higher and MCV was much lower in β-thalassemia trait as compared to iron deficiency anaemia.Both groups were subjected to RDW,RDWI,SI,MI and GI. Conclusion:Among various discriminant function calculated from different haematological parameters and blood indices,Mentzer index and Srivasta index are more sensitive and specific for differentiating iron deficiency anaemia and β-thalassemia trait.


2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Yeong Yeh Lee ◽  
Shalini Bhaskar

We report a 33-year-old Malay woman presented with acute left dense hemiparesis and an NIHSS score of 11/15. Computed tomography (CT) scan brain showed a massive right middle cerebral artery (MCA) territory infarct. The right internal carotid artery (ICA) and right proximal MCA were shown occluded from digital substraction angiography (DSA). Carotid dissection, carotid canal anomaly, and intercavernous communication were systematically ruled out. She had no risk factors for atherosclerosis. The connective tissue screening and thrombophilic markers were negative. However, she was anaemic on admission and subsequent investigations revealed that she had alpha-thalassemia and iron deficiency anaemia. The right ICA remained occluded from a repeat CT cerebral angiogram after one year, but otherwise she was neurologically stable. This case illustrates an unusual association between intracranial vessel occlusion with iron deficiency anaemia and alpha-thalassemia trait.


2020 ◽  
Vol 2 (3) ◽  
pp. 56-61
Author(s):  
Naseeb Ullah ◽  
Muhmmad Ali Khan ◽  
Shafi Muhammad Khosa ◽  
Mohsin Ali ◽  
Ashique Hussain ◽  
...  

In Pakistan, β-thalassemia is considered as one of most typical genetic abnormality. Different countries like Itlay, France, and Greece have recognised thalassemia as preventive disorder of society. In Pakistan, since 1994 different efforts were made to control thalassemic epidemic. Inspite of this, there is no significant decline in occurrence of childbirth with transfusion dependent β-thalassemia incidents. In order to obtain fruitful results of general thalassemia eradication program nation wide,  it is vital to evaluate β-thalassemia trait (BTT) by specific, low price, and accurate mechanism of diagnosis. So, this current research was carried out to decide the levels of HbA2 in samples by the use of Capillary Zone Electrophore and Cellulose Acetate Hemoglobin Electrophoresis. This comparative research was done in the four groups:  i) Normal Individual having no sign or symptom of thalassemia ii) Patients having BTT i.e b-thalassemia trait iii) Patients having IDA i.e Iron Deficiency Anemia   iv) Parents of β-thalassemia major child with iron deficiency anemia (BTT and IDA). It means that both parents are carrier of β-thalassemia not diagnosed yet. The level of HbA2 were estimated by the Cellulose Acetate Hemoglobin Electrophoresis and Capillary Zone Electrophoresis independently and then compared to design established results. Result: Both these methods have found to be correct for the patients having b-thalassemia trait (BTT) but in combined condition, cases of b-thalassemia trait (BTT) were failed to be analyzed by both these systems. Conclusion: As this technique is very easy, easily reachable and affordable. So, it is highly recommended for the diagnosis in the poor province like Balochistan in Pakistan. In thalassemia prevention, it plays a vital role.  


2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Eloísa Urrechaga ◽  
Ohiane Boveda ◽  
Johannes J.M.L. Hoffmann

<p>Single-cell optical analysis of red blood cells provides information on the cellular hemoglobin concentration and volume of red cells. We evaluated the reliability of the typical profiles of the cytogram hemoglobin concentration/ volume (Mie Map), produced by the CELL-DYN<sup>®</sup> Sapphire analyzer (Abbott Diagnostics, Santa Clara, CA, USA) in the discrimination of iron deficiency anemia (IDA) and thalassemia trait. A total of 380 patients with microcytic anemia were studied: 220 with IDA, 101 β-thalassemia trait, 30 β-thalassemia trait with concomitant iron deficiency, 29 α-thalassemia trait. Three professionals reviewed the Mie maps, with no information regarding the disease of the patient. The observers made a presumptive diagnosis (genetic or acquired anemia) and the percentages of correct classifications were recorded. IDA showed broad shaped shift of the cytogram while carriers presented narrow clustering in the lower microcytic area: 100 % IDA were correctly classified and 96-82% of carriers were recognized. Visual inspection of the Mie map reveals different profiles in IDA and thalassemia trait; those patterns are in concordance with the numerical data Mie map helps in the evaluation of large amounts of data.</p><p> </p><p>红细胞单细胞光学分析提供了关于细胞血红蛋白浓度及红细胞体积的信息。 我们评价了典型的细胞图血红蛋白浓度/体积分布(Mie Map)在缺铁性贫血(IDA)和地中海贫血特征的识别方面的可靠性,分布曲线由CELL-DYN® Sapphire分析仪(Abbott Diagnostics, Santa Clara, CA, USA)生成。 一共对380例小细胞性贫血进行了研究:220例患有IDA,101例β有地中海贫血特征,30例β有地中海贫血特征合并缺铁性,29 α例地中海贫血特征。 由三名专业人员在没有任何患者病情信息的情况下进行Mie map读图。 读图者作出初步诊断(遗传性或获得性贫血),记录正确分类的百分比。 IDA表现出细胞图较宽发散形状的偏移,而基因携带者在更低的小细胞区域呈现较窄的聚集:100%的IDA被正确分类,96-82%的基因携带者得到确认。 Mie map的目测检查揭示了IDA和地中海贫血特征方面不同的分布;这些模式与数值数据相一致。Mie map有助于大量数据的评估。</p>


Author(s):  
G. D. Maiti ◽  
Shilpa Gupta ◽  
Jaskanwar Singh

Background: Anaemia seen in pregnancy are largely preventable and easily treatable if detected in time, despite this, anaemia still continues to be a common cause of maternal and perinatal morbidity and mortality in India.Methods: A prospective observational study of 200 pregnant women with anaemia was carried out from Jun 2017 to December 2018 at a Tertiary care hospital with pan India population. Patients underwent clinical examination and laboratory tests to find out the severity and type of anaemia and were treated accordingly. Iron deficiency anaemia was treated with oral or intravenous iron therapy depending upon the hemoglobin concentration. Patients were followed up after 28 days of treatment and hemoglobin estimation was done to monitor the treatment response.Results: A total 36.49% pregnant women had hemoglobin less than 10 gm%. 151 out of 200 women had serum ferritin <12 ng/ml which indicates that iron deficiency anaemia is the commonest type of anaemia in pregnancy. Overall, out of 200 patients 5.5% patients were found to have hemoglobinopathies (β thalassemia trait). After 28 days of treatment mean increase in hemoglobin was 2.40 gm% and 4.24 gm% in patients receiving oral and intravenous iron therapy respectively.Conclusions: A total 36.49% pregnant women were found to have anaemia during pregnancy and iron deficiency anaemia is the commonest type of anaemia. Therefore, there is still a need for dietary counselling and health education in the community. 5.5% patients were found to have beta thalassemia trait which was detected only after conducting hemoglobin electrophoresis. Both oral and intravenous iron therapy are effective in treatment of iron deficiency anaemia but intravenous iron therapy results in a more rapid resolution of anaemia.


Author(s):  
Eloísa Urrechaga ◽  
Johannes J.M.L. Hoffmann

AbstractBackground:Many discriminant formulas have been reported for distinguishing thalassemia trait from iron deficiency in patients with microcytic anemia. Independent verification of several discriminant formulas is deficient or even lacking. Therefore, we have retrospectively investigated discriminant formulas in a large, well-characterized patient population.Methods:The investigational population consisted of 2664 patients with microcytic anemia: 1259 had iron deficiency, 1196 ‘pure’ thalassemia trait (877 β- and 319 α-thalassemia), 150 had thalassemia trait with concomitant iron deficiency or anemia of chronic disease, and 36 had other diseases. We investigated 25 discriminant formulas that only use hematologic parameters available on all analyzers; formulas with more advanced parameters were disregarded. The diagnostic performance was investigated using ROC analysis.Results:The three best performing formulas were the Jayabose (RDW index), Janel (11T), and Green and King formulas. The differences between them were not statistically significant (p>0.333), but each of them had significantly higher area under the ROC curve than any other formula. The Jayabose and Green and King formulas had the highest sensitivities: 0.917 both. The highest specificity, 0.925, was found for the Janel formula, which is a composite score of 11 other formulas. All investigated formulas performed significantly better in distinguishing β- than α-thalassemia from iron deficiency.Conclusions:In our patient population, the Jayabose RDW index, the Green and King formula and the Janel 11T score are superior to all other formulas examined for distinguishing between thalassemia trait and iron deficiency anemia. We confirmed that all formulas perform much better in β- than in α-thalassemia carriers and also that they incorrectly classify approximately 30% of thalassemia carriers with concomitant other anemia as not having thalassemia. The diagnostic performance of even the best formulas is not high enough for making a final thalassemia diagnosis, but in countries with limited resources, they can be helpful in identifying those patients who need further examinations for genetic anemia.


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