Comparison of Quality of Life in Patients with β-Thalassemia Intermedia and β-Thalassemia Major in Southern Iran

Increased life expectancy in patients with β-thalassemia (β-thal) requires healthcare professionals to give greater attention to improving their quality of life (QoL). We aimed to evaluate health-related QoL (HRQoL) and its determinants in patients with β-thal intermedia (β-TI) compared with β-thal major (β-TM). In this cross sectional study, 118 patients with β-TI, referred to the Thalassemia Clinic of Shiraz University of Medical Sciences, Shiraz, Iran, were investigated by convenience sampling from January to June 2014 in southern Iran. A Short Form-36 (SF36) questionnaire was used. We had previously conducted a similar study in 101 patients with β-TM (12 to 38 years). Compared data of the two studies were analyzed. Mean age was 26.5?±?6.5 (12 to 48) years in β-TI and 19.5?±?4.4 (12–38) years in the β-TM group. The best scales of HRQoL were physical functionin (PF) (76.8?±?26.6) and bodily pain (BP) (70.1?±?24.8) in the β-TI group. Males had significantly better score only in vitality dimension compared to females (p?=?0.020). Higher education (p?=?0.023) in univariate analysis and age ≤20 years (B coefficient?=?13, p?=?0.008) in multivariate analysis showed significant relationships with higher total HRQoL score in β-TI. Comparison of β-TI and β-TM, after adjusting for covariates, total HRQoL was similar between the two groups. In evaluating the subscales, only PF showed a better condition in patients with β-TM [adjusted mean difference?=?12.5, 95% confidence interval (95% CI): 5.6–19.3, p?相似文献   

GFR in Patients with β-Thalassemia Major

Background and objectives

Patients with β-thalassemia major (TM) may have tubular dysfunction and glomerular dysfunction, primarily hyperfiltration, based on eGFR. Assessment of GFR based on serum creatinine concentration may overestimate GFR in these patients. This study sought to determine GFR by using inulin clearance and compare it with measured creatinine clearance (Ccr) and eGFR.

Design, setting, participants & measurements

Patients followed up in an Israeli thalassemia clinic who had been regularly transfused for years and treated with deferasirox were included in the study. They were studied by inulin clearance, Ccr, the CKD Epidemiology Collaboration and the Modification of Diet in Renal Disease equations for eGFR, and the Cockcroft–Gault estimation for Ccr. Expected creatinine excretion rate and tubular creatinine secretion rate were calculated.

Results

Nine white patients were studied. Results, given as medians, were as follows: serum creatinine was 0.59 mg/dl (below normal limits); GFR was low (76.6 ml/min per 1.73 m²) and reached the level of CKD; Ccr was 134.9 ml/min per 1.73 m², higher than the GFR because of a tubular creatinine secretion rate of 30.3 ml/min per 1.73 m² (this accounted for 40% of the Ccr); and eGFR calculated by the CKD Epidemiology Collaboration and Modification of Diet in Renal Disease equations and Cockcroft–Gault–estimated Ccr were 133, 141, and 168 ml/min per 1.73 m², respectively. These latter values were significantly higher than the GFR, reaching the hyperfiltration range, and indicated that the estimation techniques were clinically unacceptable as a method for measuring kidney function compared with the GFR according to Bland and Altman analyses.

Conclusions

Contrary to previous reports, patients in this study with TM had normal or reduced GFR. The estimating methods showed erroneous overestimation of GFR and were clinically unacceptable for GFR measurements in patients with TM by Bland and Altman analysis. Therefore, more accurate methods should be used for early detection of reduced GFR and prevention of its further decline toward CKD in these patients.     

Family Planning Practices in Families with Children Affected by β-Thalassemia Major in Southern Iran

Preventing the birth of children with β-thalassemia major (β-TM) is an important health issue. We investigated family planning practices and related factors among families with affected children. We selected a total of 569 parents from the parents of patients with β-TM who were registered at thalassemia referral clinics in southern Iran. Information was recorded regarding demographic variables, socioeconomic status and family planning practices. The correlations between family planning practice and related factors were evaluated. Approximately 96.0% of the parents (546) were practicing contraception at the time of the study. Only 12.8% of the families whose first child had β-TM decided to have no more children. The most frequent contraceptive method was tubal ligation (TL) (37.5%) followed by oral contraceptive pills (OCP) (31.5%). Higher education level of the mothers and higher economic status of the families were found to be related with the lower numbers of children with β-TM (p = 0.001). We found a high percentage of safe contraception being used by at-risk couples. It seems that educational programs have been effective in influencing family planning practices. Further attention should be devoted to increasing the knowledge of at-risk couples with a greater focus on parents of low socioeconomic status. Because of cultural factors in Iran, many of these at-risk couples opted to achieve the desired family size, so implementation of a well-organized prenatal diagnostic system seems necessary.     

Evaluation of Mental Health and Physical Pain in Patients with β-Thalassemia Major in Northern Greece

Abstract

β-Thalassemia major (β-TM) is a chronic, genetic blood disorder. Patients are considered to be vulnerable to emotional and behavioral problems. The aim of this study was to assess mental health and somatic pain of patients with homozygous β-TM, who are systematically transfused in our unit. In this survey, 54 adult patients were studied. The general health questionnaire (GHQ-28) was used as mental health assessment model aimed at detecting mental disorders. The model of Binary was used as scoring method of GHQ-28. Overall ratings below 5 indicate no psychiatric problem, while a total score over or equal to 5 indicated the likelihood of a psychiatric disorder. The visual analogue scale (VAS) of pain was used as model for pain evaluation. One out of four examined patients who presented with a GHQ-28 score above or equal to 5 had an increased chance of being diagnosed with a psychiatric disorder. Concerning the pain, the majority of the studied patients scored between 1 and 3, meaning that they were feeling mild pain. There was no statistical significant correlation between age and GHQ-28 score. There was a statistical significant correlation between age and somatic symptoms (p?=?0.026), anxiety and somatic symptoms (0.004) as well as anxiety and depression (p?=?0.022). Thalassemic patients tend to be diagnosed with psychiatric disorders and it seems that they do not feel severe pain. More quantitative and comprehensive studies have to be conducted in order to estimate specific effective factors in psychosocial health.     

Comparison of Oral and Subcutaneous Iron Chelation Therapies in the Prevention of Major Endocrinopathies in β-Thalassemia Major Patients

While hypertransfusion and subcutaneous iron chelation therapy have increased longevity of patients with β-thalassemia (thal) major, endocrinopathies have become more common and impair the quality of their lives. Additionally, subcutaneous iron chelation therapy is an uncomfortable experience and can prevent patients from regular compliance with iron chelation therapy. We compared the efficacy of oral deferiprone (L1) to subcutaneous desferrioxamine (DFO) chelation therapy for the prevention of major endocrinopathies (growth hormone insufficiency, diabetes mellitus and gonadal dysfunction) among patients with β-thal major to see if we could offer these patients an easier and more painless way to reduce their body iron load and related endocrine complications.     

Distribution of β-Thalassemia Mutations in the Northern Provinces of Iran

β-Thalassemia (thal) is one of the most common autosomal recessive disorders in Iran. There are more than two million carriers of β-thal and over 15,000 people affected with β-thal major who live in Iran. Prevalent mutations were identified by examining genomic DNAs isolated from 392 blood samples of β-thal carriers from three northern provinces of Iran. Furthermore, 172 pregnant women were analyzed from the 196 couples who requested pregnant diagnosis for β-thal. Allele identification was carried out using routine reverse dot-blot, amplification refractory mutation system (ARMS), and genomic sequencing. The most common mutation, IVS-II-1 (G→A), is followed, in order of frequency, by codon 30 (G→C), frameshift codons (FSC) 8,9 (+G), FSC 22/23/24 (?AAGTTGG), IVS-I-110 (G→A), IVS-I-5 (G→C), IVS-II-745 (C→G), IVS-I-2 (T→C), FSC 8 (?AA), IVS-I,3′-end (?25 bp), IVS-I-1 (G→A), FSC 36/37 (?T), IVS-I-6 (T→C), FSC 5 (?CT), ?28 (A→C), codon 37 (G→A), IVS-II-2,3 (+11/?2), ?30 (T→A), and ?88 (C→A). We have also revealed the existence of five new mutations from northern Iran, one of which (codon 37) is the first reported for Iran. Furthermore, the rate of unknown mutations is significantly reduced in our study (about 6%). These results could help with establishing a center for prenatal diagnosis, prevention, and control of thalassemia in the northern provinces of Iran.     

Molecular Spectrum of β-Thalassemia Mutations in Northwestern Iran

β-Thalassemia (β-thal) is a hereditary autosomal disorder with decreased or absent β-globin chain synthesis. This study was designed to identify the common and rare β-thal mutations in the Azerbaijan provinces, Northwestern Iran, and to set up a prenatal diagnostic laboratory. One hundred unrelated patients with known β-thal major and intermedia, registered with the thalassemia clinics in the provincial capitals of Tabriz and Ardebil, were included. Mutations were studied in 200 chromosomes, by polymerase chain reaction-amplification refractory mutation system (PCR-ARMS) and direct sequencing methods. We found 17 β-thal mutations in this region of Iran. The results showed that IVS-II-1 (G→A) was the most frequent mutation, comprising 21% of all mutations. Other common mutations were IVS-I-110 (G→A) 18%, frameshift codons (FSC) 8/9 (+G) 14.5%, FSC 8 (?AA) 8% and IVS-I-1 (G→A) 7.5%. This is the first comprehensive study in this region and could be useful for developing a β-thal molecular screening in Azerbaijan-Iran     

Molecular Characterization of β-Thalassemia Intermedia in Southeast Iran

Inheritance of mild mutations within the β-globin gene and coinheritance of α-thalassemia (α-thal) are known as two important genetic modifiers in β-thalassemia (β-thal) intermedia (β-TI). We aimed to evaluate the spectrum of β- and α-thal mutations in β-TI patients in Southeast Iran. Common β- and α-globin gene mutations were detected by amplification refractory mutation system–polymerase chain reaction (ARMS–PCR) and multiplex gap-PCR, respectively. There were 26 male (57.8%) and 19 female (42.2%) patients. HBB: c.92?+?5T?>?C [IVS-I-5 (G?>?C)] and HBB: c.?138C?+?1G?>?A [IVS-II-I (G?>?A)] represented the prevalent alleles with respective frequencies of 60.0 and 10.0%. Other β-globin mutations included HBB: c.-138C?>?T [–88 (C?>?T)], HBB: c.27_28insG [frameshift codons (FSC) 8/9 (+G)], HBB: c.46delT [codon 15 (–T)], HBB: c.93-22_95del (IVS-I, 25 del), and the 619?bp deletion (NG_000007.3: g.71609_72227del619). The predominant genotypic combinations were β⁰/β⁰ (68.9%), β⁰/β^+?(8.9%) and β⁺/β^+?(2.2%). Coinheritance of α-thal was observed in 33.0% of the patients, with the –α^3.7 (rightward) (NG_000006.1: g.34164_37967del3804) as the most common deletion (86.0%). One patient was diagnosed with the –α^4.2 (leftward) (AF221717) and one with the – –^MED (g.24664_41064del16401) deletions, while no patients carried the –(α)^20.5 (g.15164_37864del22701), α^–5?nt (HBA2: c.95?+?2_95_6delTGAGG) or codon 19 (–G) (HBA2: c.56delG) mutations. The alleviating molecular mechanism was not explainable by β^+?or concurrent α-thal in more than half of our β-TI patients. This encourages conducting more studies to identify other contributing factors, especially Hb F-inducing genetic modifiers.     

The Frequency of HBB Mutations Among β-Thalassemia Patients in Hamadan Province,Iran

β-Thalassemia (β-thal) caused by mutations on the HBB gene is the most common single-gene disorder in the world. In this study, the HBB gene mutation was investigated in Hamadan province, Iran. Forty-one patients referred to a referral hospital were admitted to the study. DNA samples were extracted from peripheral blood. The HBB gene was sequenced in all recruited patients. Eleven mutations and eight polymorphisms were found in the studied patients. IVS-II-1 (G>A) (HBB: c.315+1?G>A) was the most common mutation, accounting for 25.61% of mutant alleles. Other mutations included codon 8 (–AA) (HBB: c.25?26delAA); IVS-I-110 (G>A) (HBB: c.93?21?G>A); codons 8/9 (+G) (HBB: c.27?28insG); IVS-I-1 (G>A) (HBB: c.92?G>A); codon 44 (–C) (HBB: c.135delC); codons 25/26 (+T) (HBB: c.78?79insT); IVS-I-130 (G>C) (HBB: c.93?1?G>C); –28 (A>C) (HBB: c.?78 A>C); codons 36/37 (–T) (HBB: c.112delT) and IVS-I-6 (T>C) (HBB: c.92+6 T>C). According to our findings, the IVS-II-1 mutation has the highest prevalence in Hamadan Province. It was found that the total frequency of the IVS-II-1, codons 25/26 (+T), codons 8/9 (+G), IVS-I-110 and IVS-I-1 mutations was 82.92%. Therefore, given these findings, it is recommended that these five mutations are screened for as a first step in laboratories without sequencing instruments, and that the rest of the gene is subsequently examined.     

Prenatal Diagnosis for β-Thalassemia Major in the Iranian Province of Hormozgan

β-Thalassemias are a group of heterogenous recessive disorders common in many parts of the world. Despite the great advances in the treatment of thalassemia, there is so far no cure, but perhaps bone marrow transplantation (BMT) is a possibility. Prevention, using prenatal diagnosis and selective abortion in the cases where the fetus is found to be affected, should be considered as a sensible alternative. During the past 5 years, 112 couples have been referred to our Center for detection of their β-thalassemia (β-thal) carrier status. In this group, common and rare mutations were detected. Of these, 106 couples (94.6%) came for counseling during pregancy and six (5.4%) came before becoming pregnant. Prenatal diagnosis was performed for the 106 couples at risk. Fetal DNA was obtained from both chorionic villus sampling (CVS) (99) and amniotic fluid (). Using reverse hybridization, 64 (60.4%) were found to be heterozygous for a β-thal mutation and 24 (22.6%) were normal. Eighteen (17.0%) were found to carry an affected fetus and these pregnancies were terminated.     

Compliance with Deferoxamine Therapy and Thyroid Dysfunction of Patients with β-Thalassemia Major in Syria

Abstract

Hypothyroidism is one of the common endocrine complications described in patients with β-thalassemia major (β-TM). Studies have reported its incidence and severity depending on the region, quality of management and treatment protocols. The reported thyroid dysfunction includes overt hypothyroidism, subclinical hypothyroidism and rarely, central hypothyroidism. The main aims of this study were to identify the incidence of hypothyroidism in 82 patients with β-TM in Syria, and also to evaluate the effect of compliance with deferoxamine (DFO) therapy on the patients’ thyroid function. Out of the 82 patients included in this study, 24 had subclinical hypothyroidism (29.27%) and one patient had overt hypothyroidism (1.22%). It was demonstrated by this study that noncompliance with DFO therapy increases the risk of thyroid dysfunction 6.38-times compared to compliance with DFO [risk ratio (RR) = 6.385; 95% confidence interval (95% CI) 2.40-16.95)]. These results emphasize the importance of compliance with chelation therapy to minimize the burden of thyropathy on patients’ quality of life, and also augment the rationale for a routine follow-up and endocrine evaluation for early detection and management of these complications.     

Quality of Life and Depression in Turkish Patients with β-Thalassemia Major: A Cross-Sectional Study

Abstract

Thalassemias are the most common monogenic disorders worldwide. Thalassemia patients experience difficulties in their schooling, finding jobs and/or marriage because of functional and physical limitations caused by this disease. It is expected that the quality of life (QoL) of patients with thalassemia will be lower than those without this disease. The aim of this study was to benefit worldwide thalassemia patients in terms of QoL and mental health. This cross-sectional study was performed in Turkey. The study population consisted of of 57 β-thalassemia major (β-TM) patients and the control group. The short form-36 (SF-36) questionnaire and Beck depression inventory (BDI) were used. The mean age of the patients was 21.6?±?6.6 (age range 15-39) and the male-to-female ratio was 0.7. The mean SF-36 scores of the patient and the control groups were 59.2?±?12.4 and 75.7?±?11.8, and the mean BDI scores of the patients and controls were 13.5?±?6.4 and 6.1?±?3.7, respectively. There was a statistically significant difference between the total SF-36 and BDI scores of patients and controls. We aimed to investigate the effects of the decrease in morbidity and mortality of β-thalassemia (β-thal) due to regular transfusions and chelation therapy on the QoL and mental health of patients. The β-TM patients have a comparatively worse QoL score than the normal population. Improving QoL should be the target of clinicians who are monitoring adolescent or young adult β-TM patients.     

Molecular Heterogeneity of β-Thalassemia Alleles in Spain and its Importance in the Diagnosis and Prevention of β-Thalassemia Major and Sickle Cell Disorders

In the last 20 years, migratory flows have changed the pattern of β-thalassemia (β-thal) mutations in Catalonia and have also increased β^S prevalence, either alone or in association with β-thal alleles. Characterization of the β gene is needed for genetic counseling for β-thal major and also for sickle cell diseases. The purpose of this study was to investigate the current distribution pattern of β‐thal mutations. Seventy nine individuals were characterized at the molecular level. As a first step, frequent mutations in the Mediterranean region were screened and when none of these mutations were identified, the β-globin gene was sequenced. Screening for common mutations allowed the characterization of 60 individuals. In the remaining 19 cases, 11 different mutations were identified. β-Thalassemia heterogeneity in Spain has markedly increased, leading to the requirement of including new methods for genetic diagnosis. Prevention of β-thal major and sickle cell disease are necessary since their prevalence in Spain is increasing dramatically.     

The Diminishing Trend of β-Thalassemia in Southern Iran From 1997 to 2011: The Impact of Preventive Strategies

The marginal zones of the Caspian Sea and the Persian Gulf have a higher prevalence of thalassemia compared to other regions of Iran. This disease has disabled many people and resulted in increasing health care costs. The aim of this study was to assess the incidence of β-thalassemia (β-thal) and to evaluate the outcome of applied preventive strategies over a 14-year period in Fars Province, Southern Iran. This cross-sectional study comprised all new cases of β-thal recorded during 1997–2011. The data were obtained from the Non-Communicable Diseases Surveillance Department of Shiraz University of Medical Sciences, Shiraz, Iran, and are presented as mean?±?standard deviation (SD).

?The Fars Health Network System screened 840 686 males and females applying for marriage certificates. Among the carriers, 50.5% cancelled their marriages, 42.5% married, and 7.0% did not show up at the clinics. The rate of cancelled marriages has reduced since 2000, when marriage candidates were given the option of prenatal diagnosis. From 2000 to 2011, a total of 3539 married couples were referred for prenatal diagnosis. Of these, 806 fetuses were found to carry thalassemia and 800 aborted. It is impressive to note that while 101 cases of thalassemia were recorded in 1997, this figure was reduced to two cases by 2011. This study has established that an integrated primary health care approach, with good infrastructure for implementing successful strategies, can significantly reduce the incidence of β-thal.     

Expression of CD55 on Red Blood Cells of β-Thalassemia Patients

CD55 is a complement regulatory protein expressed by cells to protect them from bystander lysis by complement. It prevents the formation of C3/C5 convertase. In β-thalassemia (β-thal), the defective hemoglobin (Hb) production makes red blood cells (RBCs) lyse early and frequently. Loss of CD55 expression in those patients compromises the complement regulatory function, thereby accelerating RBC lysis. In this study, we aimed to evaluate the expression of CD55 on erythrocytes of β-thal patients. Flow cytometry analysis of CD55 was conducted on RBCs of 21 β-thalassemia major (β-TM) patients, 11 β-thalassemia intermedia (β-TI) patients and 10 healthy volunteers. The results showed a significant decrease in CD55 expression in β-TM (57.5?±?16.7%), while there was a slight decrease in β-TI patients (81.8?±?3.8%) in comparison with that of the normal controls (88.7?±?0.8%). The diminished expression of CD55 was not accompanied by decrease in CD59 expression in β-thal patients (97.2?±?2.3%). This could suggest a mechanism (could be genetic) responsible for low CD55 expression. It may be related to defective Hb genes in thalassemia, but it does not relate to cell membrane changes.     

Peroxisome Proliferator-Activated Receptor-γ Pro12Ala Polymorphism and Risk of Osteopenia in β-Thalassemia Major Patients

Genetic factors have an important role in the incidence of osteopenia in thalassemia patients. The purpose of this study was to investigate the effect of the Pro12Ala polymorphism of the peroxisome proliferator-activated receptor-γ (PPARγ) gene on bone mineral density (BMD) and subsequently, the rate of osteopenia in β-thalassemia major (β-TM) patients. Blood samples were obtained from 156 β-TM patients referred to the Tehran and Qazvin Thalassemia Clinics. Samples were analyzed for polymorphisms of the PPARγ gene using polymerase chain reaction-restriction fragment length polymorphism (RFLP)-based methods. Multivariate analysis was used to investigate the relationship between the risk of osteopenia and the PPARγ gene polymorphism. Correlation analysis showed that there was a significant association between homozygous wild-type genotypes with susceptibility to osteopenia in β-TM patients (p = 0.024). Logistic regression analysis showed that the risk of osteopenia was significantly (p <0.05) higher in the homozygous wild-type genotype than carriers of the rare alleles. Furthermore, the associations were strengthened in men with a homozygous wild-type genotype after adjustment for age and body mass index (BMI) (p <0.05). This study suggests that the Pro12Ala polymorphism of the PPARγ gene might be an independent factor in BMD level and osteopenia in thalassemia patients.     

The Spectrum of β-Thalassemia Mutations in Hamadan Province,West Iran

β-Thalassemia (β-thal) is one of the most common hemoglobinopathies worldwide and is caused by mutations on the β-globin (HBB) gene. The aim of the present study was to determine the mutation spectrum of the β-globin gene in β-thal carriers who were originally from Hamadan Province, Western Iran. Two hundred and eighty-two β-thal carriers participated in the study. Amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and direct sequencing were used for detection of different mutations. A total of 25 different mutations, including 21 β-thal mutations and four other hemoglobin (Hb) variants, in 280 β-thal carriers (99.3%) were detected in the present study. Three types of mutations including IVS-II-1 (G>A) (HBB: c.315+1G>A) (26.24%), codons 8/9 (+G) (HBB: c.27_28insG) (14.54%) and codons 36/37 (–T) (HBB: c.112delT) (12.76%) accounted for more than 50.0% of the identified mutations. Moreover, IVS-I-110 (G>A) (HBB: c.93-21G>A), codon 44 (–C) (HBB: c.135delC) and IVS-I (25?bp deletion) (HBB: c.93-21_del), had frequencies of 7.09, 7.09 and 5.67%, respectively. Allele frequencies of the remaining 19 mutations were less than 5.0%. This study is the first comprehensive study on a large sample size in Hamadan Province, Iran. In conclusion, the present study significantly increased the spectrum of HBB gene mutations in Hamadan Province compared with previous studies. Therefore, these results can be helpful in identifying β-thal carriers and at-risk fetuses through prenatal diagnosis (PND).     

Haplotype Analysis of Three Common β-Thalassemia Mutations in Syrian Patients

Abstract

β-Globin haplotypes were used to investigate the origin of three common β-globin mutations, IVS-I-110 (G>A); HBB: c.93-21G>A, IVS-I-1 (G>A); HBB: c.92?+?1G>A and codon 39 (C>T); HBB: c.118C?> T in Syrian patients. Haplotype analysis was done for 49 unrelated patients with β-thalassemia (β-thal) and 20 unrelated healthy subjects by polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) for the β-globin gene cluster of the following polymorphic restriction sites: HincII 5' to ε, HindIII 5' to ^Gγ, HindIII 5' to ^Aγ, HincII in ψβ, HincII 3' to ψβ, AvaII in β, and HinfI 3' to β. The IVS-I-110 mutation was associated with three haplotypes: I [+ – – – – + +] (79.4%), V [+ – – – – + –] (5.9%) and VII [+ – – – – – +] (14.7%), while, the two mutations IVS-I-1 and codon 39 were be linked to a single haplotype V (100.0%) and II [– + + – + + +] (100.0%), respectively. The normal chromosomes (β^A/β^A) were associated with four haplotypes, I (50.0%), II (7.5%), V (32.5%) and VII (10.0%). In the Syrian population, the IVS-I-110 mutation was associated with multi haplotypes, whereas the IVS-I-1 and codon 39 mutations have a single origin. More studies for the other mutations will be very useful for genetic epidemiological studies in Syria.     

The Spectrum of α-Thalassemia Mutations in the Lak Population of Iran

α-Thalassemia (α-thal) is one of the most common genetic disorders worldwide. The aim of this study was to investigate for the first time the α-thal mutation spectrum in the Lak population living in Lorestan Province, Iran. One hundred and seventy-six α-thal carriers participated in the study. Multiplex gap-polymerase chain reaction (gap-PCR), amplification refractory mutation system (ARMS)-PCR and direct sequencing were used for the detection of different mutations on the α-globin (HBA1 and HBA2) genes. A total of 11 different mutations was identified. The –α^3.7 (rightward; NG_000006.1: g.34164_37967del3804) deletion was observed most frequently (56.35%), followed by α^?5?ntα (HBA2: c.95+2_95+6delTGAGG), α^polyA2α (HBA2: c.*92A>G) and – –^{MED I} (NG_000006.1: g.24664_41064del16401), with frequencies of 15.47, 9.39, and 6.08%, respectively. These four mutations accounted for more than 87.0% of the total mutated alleles. Moreover, 19 different genotypes were identified. The types and distribution pattern of the mutations identified in this study, in comparison with other studies conducted in Iran, was most similar to the Kurdish population of Kermanshah Province, Iran. Due to the lack of information on α-thal in Lorestan Province, it was not possible to compare the mutation spectrum in the Lur and Lak populations. In conclusion, our results may help in setting up a strategy for an α-thal screening program and genetic counseling in the Lak people.