Quality-of-life of patients living with thalassaemia in the West Bank and Gaza.

Background: In countries with low resources, the health and quality-of-life of people living with thalassaemia can be severely affected. Aims: This study examined the health-related quality-of-life of people living with thalassaemia in the West Bank and Gaza, Palestine. Methods: This was a cross-sectional study of a convenience sample of 104 patients (71 adults and 33 children) who lived with thalassaemia and their families in 2015 in the West Bank and Gaza. Participants were surveyed using the 36-item Short Form Health Survey, version 2 (SF36v2), Pediatric Quality of Life InventoryTM (PedsQL) and PedsQL Family Impact Module to assess their quality-of-life. With the SF36v2, we used normed-based scoring and for the PedsQL and Family Impact Module, we used the 0-100 scoring. Scores are reported as means and standard deviations and P < 0.05 considered statistically significant. Results: Quality-of-life scores were low across all domains, indicating poor quality-of-life. For bodily pain in the SF36v2, a significant difference was observed between the West Bank and Gaza. No significant differences were found between males and females. Data from the PedsQL showed no significant differences between the West Bank and Gaza. With the Family Impact Module, the summary score was higher among adults than among paediatric patients. Compared with other countries, thalassaemia patients in Palestine generally had lower quality-of-life scores in most domains. Conclusion: The lack of access to healthcare and blood transfusions, and the geopolitical challenges may be responsible for the low quality-of-life scores of patients living with thalassaemia in Palestine.

Health Status of Patients With ß-Thalassemia in the West Bank: A Retrospective-Cohort Study.

Management of ß-thalassemia in developing countries is demanding in the absence of available therapies rather than recurrent transfusions. This study describes the characteristics and evaluates the hematological, biochemical, and hormonal findings of patients with ß-thalassemia in the West Bank. We conducted a retrospective cohort study between January 2017 and December 2018. Data were collected through medical files of the patients with ß-thalassemia from eight primary healthcare clinics, nine emergency departments, and 11 governmental hospitals across the West Bank. Results of the hematological, biochemical, and hormonal evaluations, in addition to demographic data and the use of iron chelation were included in the study and analyzed. A total of 309 patients with ß-thalassemia were included with a male-to-female ratio of 1:1 and an average age of 23.4 ± 10.4 years. The anemic presentation was reported in 78.6% of the patients as indicated by hemoglobin level (mean ± SD = 8.4 ± 1.4 g/dl), and 73.1% had iron overload with serum ferritin (SF) levels ≥ 1,000 µg/L (mean ± SD = 317.8 ± 3,378.8 µg/L). Evaluation of the liver function tests showed that alanine transaminase (ALT) and aspartate transaminase (AST) levels were high among 38.1 and 61.2% of the patients, respectively. ALT and AST showed significant positive correlations with SF levels, while the kidney tests did not. As for iron chelation medications, patients receiving deferoxamine (26.5%) showed significantly higher SF levels compared with patients receiving deferasirox (73.5%). This study highlights the importance of establishing patient-tailored comprehensive assessment and follow-up protocols for the management of ß-thalassemia with an emphasis on blood transfusion and iron chelation practices.

Bone mineral density among Palestinian patients suffering from hemoglobinopathy disorders.

This study aimed to investigate the correlation between bone mineral density (BMD) with hemoglobin and ferritin levels in Palestinian patients suffering from various types of hemoglobinopathies. The study revealed the thresholds of hemoglobin and ferritin to protect against low BMD in these patients. PURPOSE: Iron overload is the main cause of low BMD in subjects with hemoglobinopathies. We used iron overload-related parameters like hemoglobin and ferritin to estimate the cutoff values required to maintain bone health and identify subjects with low BMD. METHODS: Palestinian patients (135) suffering from various types of hemoglobinopathies were recruited from various medical centers including 87 ß thalassemia major (TM), 13 thalassemia intermedia (TI), 16 sickle cell anemia (SCA), 17 sickle cell thalassemia (SCT), and 1 thalassemia trait (TT). Most subjects (84%) were below the age of 30 years. BMD was measured and the z score was used to identify subjects with low BMD (z < - 2.0). Receiver operator characteristic (ROC) curve analysis was used to estimate the thresholds of hemoglobin and ferritin levels needed to protect against low BMD in these patients. RESULTS: No difference in means of age, weight, BMI, hemoglobin, and ferritin levels among the recruited male and female subjects were observed. The results showed that 77% of TM subjects had low BMD levels and femoral neck and total hip BMD were significantly lower among female compared to male subjects. Thalassemia patients (TM, TI, and SCT combined) had significantly low BMD and lower hemoglobin mean values compared to normal BMD subjects (8.54 vs. 9.25 g/dL, p = 0.01). Pearson's correlation analysis showed positive correlation between hemoglobin levels and BMD at the three sites, being higher with lumbar spine (r = 0.444) compared to femoral neck (r = 0.291) and total hip (r = 0.224). Ferritin levels in TM patients (4800 ng/ml) and TI subjects (1500 ng/ml) were abnormally high. ROC curve analysis showed that hemoglobin threshold ≤ 9.3 g/dL represents a risk for developing low BMD with an area under the ROC curve (AUC) 0.699 and sensitivity and specificity were 87.9% and 47.7%, respectively. Similar analysis revealed that Ferritin threshold to protect against low BMD should be maintained below 2300 ng/ml with AUC 0.619 and sensitivity and specificity were 55.0% and 71.4%, respectively. CONCLUSIONS: The results of this study strongly recommend to maintain hemoglobin levels above 9.3 g/dL and ferritin below 2300 ng/ml to protects against low BMD in TM subjects and patients suffering from the other related hemoglobinopathies.

Molecular Understanding of Severe Cases of ß-Thalassemia in the Nablus Region, West Bank, Palestine.

Hemoglobinopathies are common inherited monogenic diseases that are likely to remain a serious regional health problem where thalassemias and sickle cell disease are prevalent. In regions where recessive alleles for hemoglobinopathy disorders are present with high consanguinity rates, such as in Palestine, coinheritance of two different genetic defects becomes anticipated and prevalent. In this report, we characterize the molecular variants of the HBB gene for 16 patients with transfusion-dependent anemia registered at the Thalassemia Patient Friends Society in Nablus governorate, West Bank, Palestine. Analysis revealed that 63.0% (10/16) of the patients were homozygous for ß-thalassemia (ß-thal), IVS-I-6 (T>C) (HBB: c.92+6T>C) or IVS-I-110 (G>A) (HBB: c.93-21G>A); 19.0% (3/16) homozygous for sickle cell disease or Hb S (HBB: c.20A>T, p.Glu6Val); 13.0% (2/16) were double heterozygotes for Hb S/ß-thal, (HBB: c.20A>T/HBB: c.92G>C) and HBB: c.20A>T/HBB: c.321_322insG; and one case was a compound heterozygote for ß-thal, codon 39 (C>T) (HBB: c.118C>T) and IVS-I-110. The most common mutation reported in the 16 patients was IVS-I-6 (0.38), followed by IVS-I-110 (0.28) Hb S (0.25) and 0.03 each for codon 39, codons 106/107 (HBB: c.321_322insG) and Hb Monroe (HBB: c.92G>C). In conclusion, in Palestine, a variety of intricate inheritance patterns are encountered in clinical practice.

Factors associated with continuing emergence of ß-thalassemia major despite prenatal testing: a cross-sectional survey.

PURPOSE: Health care initiatives focusing on prenatal testing and premarital genetic screening aiming to reduce the incidence of ß-thalassemia have emerged during the last decade. In Palestine, 4% of the population are known thalassemia carriers with new cases continuing to appear despite the availability of prenatal testing. This study aims to identify factors that influence the decision to retain or abort fetuses affected by ß-thalassemia in Palestine. METHODS: Convenience sampling was used to select 32 women (72 fetuses) who were at risk of having a baby with ß-thalassemia. A questionnaire on prenatal testing, test results, pregnancy outcomes, and factors influencing the decision to terminate the pregnancy were used for this cross-sectional study. The data were analyzed using SPSS version 17. RESULTS: Among the fetuses screened, 36 (50%) were thalassemia carriers and 20 (28%) had ß-thalassemia; 17 (85%) affected fetuses were aborted. Religious beliefs were the most cited reason for opposing abortion while prior experience with ß-thalassemia patients and awareness programs promoted abortions. Mothers who opted to retain an affected fetus had modest educational attainment. Higher educational level was significantly associated with the decision to abort an affected fetus (p<0.05). CONCLUSION: A religious consensus is needed on the abortion of fetuses affected by ß-thalassemia. Improving female education and increasing awareness on thalassemia could help reduce the incidence of ß-thalassemia in Palestine and around the world.