scholarly journals Evaluation of Erythroferrone, Hepcidin, and Iron Overload Status in Iraqi Transfusion-dependent β-Thalassemia Major Patients

2019 ◽  
Author(s):  
Hasan Smesam ◽  
Hasan Qazmooz ◽  
Sareh Arjmand ◽  
Hussein Kadhem Al-Hakeim ◽  
Seyed Omid Ranaei‐Siadat,
Keyword(s):  
Iron Overload ◽  
Iron Status ◽  
Iron Chelation ◽  
Fold Increase ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Control Group ◽  
Beta Globin ◽  
Beta Thalassemia Major ◽  
Globin Chains

Beta thalassemia major (β-TM) disorder characterized by the lack, or severe reduction in the production of hemoglobin β-globin chains. The standard protocol for the management of β-TM is blood transfusion and iron chelation therapy to reduce the iron overload state. The present study aimed to investigate the relationships between two iron regulatory hormones, hepcidin (HEPC) and erythroferrone (ERFE) levels and iron status parameters (ISPs) in Iraqi patients with β-TM. ISPs and hormones were measured in sixty patients and compared with thirty healthy controls. The results indicated significant changes in different iron status parameters, while ferritin (FRT) with the ~11 fold increase showed the most change. Significant reduction in HEPC and increase in ERFE levels were detected in patients as compared to the control group, while no direct correlation was identified with the other measured ISPs. Receiver operating characteristic (ROC) analysis showed that the z-score of the composite of ERFE+FRT has a full diagnostic ability for β-TM. In conclusion, our finding indicated the correlation between different ISPs, FRT as the leading predictor of iron overload and tow main iron regulatory hormones.

scholarly journals Cytokine Dependent Hematopoietic Cell Linker (CLNK) is Highly Elevated in Blood Transfusion Dependent Beta-Thalassemia Major Patients

2019 ◽  
Author(s):  
Hussein Kadhem Al-Hakeim ◽  
Hawraa Hussein Al-Mayali ◽  
Michael Maes
Keyword(s):  
Iron Status ◽  
Globin Gene ◽  
Adaptor Protein ◽  
Thalassemia Major ◽  
Severe Form ◽  
Hematopoietic Cell ◽  
Beta Thalassemia ◽  
Beta Globin ◽  
Beta Thalassemia Major ◽  
Globin Chains

Beta-thalassemia major (β-TM) is a severe form of thalassemia caused by mutations in the β-globin gene, resulting in partial or complete deficiency of β-globin chains. This deficiency results in oxidative stress, dyserythropoiesis, and chronic anemia. Cytokine dependent hematopoietic cell linker (CLNK) belongs to the adaptor protein family and has the capacity to interact with multiple signaling proteins thereby modulating signal transduction. The aim of the present study was to examine CLNK in sera of β-TM patients and examine its association with iron overload biomarkers. Sixty β-TM patients, aged 3–12 years old and undergoing blood transfusions, and 30 healthy control children were recruited and CLNK, ferritin and iron status parameters were measured. The results showed a significant increase (p < 0.001) in serum CLNK levels in β-TM patients as compared with normal controls. The increased levels of CLNK were significantly associated with increased ferritin levels. Increased CLNK levels in β-TM may be explained by reciprocal effects between immune signaling and immature erythrocytes, which, release soluble receptors and signaling molecules, including CLNK, in the blood.

Growth Differentiation Factor 15 (GDF15) and Erythropoietin (EPO) Levels in Beta Talassemia Major Patients.

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 1881-1881
Author(s):  
Ilaria Salussoglia ◽  
Gisella Volpe ◽  
Silvia Fracchia ◽  
Simona Roggero ◽  
Filomena Longo ◽  
...  
Keyword(s):  
Iron Status ◽  
Clinical Status ◽  
Transferrin Saturation ◽  
Iron Chelation ◽  
Serum Levels ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Transfusion Therapy ◽  
Beta Thalassemia Major ◽  
The Mean

Abstract Background: The serum level of GDF15 has been recently indicated as a possible marker of erythropoiesis (Tanno et al., Nature 2007) suggesting a role of its over-expression in contributing to iron overload in thalassemia syndromes by inhibiting hepcidin expression. The aim of present study has been to evaluate GDF15 serum levels in a homogeneous series of thalassemia patients and the relationship with transfusional parameters and iron status markers. Methods: A group of consecutive patients with beta thalassemia major followed at our institution were included in the study. All patients were on regular transfusion and iron chelation treatment. Quantification of GDF15 on serum samples was performed with DuoSet ELISA for human GDF15 (R&D Systems) following the manufacturer’s protocol (Tanno et al., Nature 2007). Each patient had also a blood test for haemoglobin (Hb), serum iron, ferritin, transferrin, transferrin saturation and EPO levels. Liver Iron Concentration by SQUID and cardiac iron by MRI T2* have been assessed. The mean hemoglobin levels of the previous year (pre-transfusional, post-transfusional and mean) have been calculated for each individual. The presence of mild thalassemic mutations was used to classify mild or severe genotype. Clinical status has been assessed on the presence/absence of main complications (heart disease, liver disease, diabetes, hypothyroidism). Statistical analysis was performed using the software Statistica (StatSoft). Results: One hundred-forty patients (73 male, 67 females) were studied. The mean age was 27.9 ± 9.0 years (range: 3.5–42). One hundred (71%) were splenectomised. Betathalassemia major patients had elevated GDF15 serum levels (mean 6892 ± 6894 pg/mL; range 720–52521) in comparison with healthy volunteers (273 ± 104 pg/mL; range 129–401). GDF 15 levels were strongly related to EPO levels (r=0,81; p<0,001). GDF15 levels were not related with age, gender, spleen, clinical status and iron markers. Patients with a severe genotype had higher GDF15 levels than mild genotype patients. GDF15 levels had a negative correlation with Hbs (p<0,05 for actual Hb and pre-transfusional Hb; p<0,001 for post-transfusional Hb and mean Hb). In thalassemia major patients with a severe genotype, GDF15 levels within thrice the normal range have been observed only in patients with pre-transfusional Hb above 9,6, post-transfusional Hb above 12,5 and a mean Hb above 11,3. Conclusions: In beta thalassemia major patients on regular transfusion and iron chelation, serum GDF15 levels are high, inversely related to the haemoglobin levels maintained. Further studies of this marker may lead to a rethinking of the optimal transfusion therapy in these conditions.

Cardioprotection by Deferiprone[L1] Inspite of Rising Serum Ferritin in Beta Thalassemia Major Patients.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 3816-3816
Author(s):  
Anil Pathare ◽  
Shahina Daar ◽  
Salam Alkindi ◽  
J.David Dennison
Keyword(s):  
Iron Overload ◽  
Serum Ferritin ◽  
Iron Chelation ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Myocardial Performance ◽  
Beta Thalassemia Major ◽  
One Year ◽  
Fractional Shortening ◽  
Paired T Test

Abstract Background: Iron overload is the main cause of morbidity and mortality especially from heart failure in patients with beta thalassemia major (TM). Successful iron chelation is therefore essential for the optimal management of TM. Although desferrioxamine (DFX) has been the major iron-chelating treatment of transfusional iron overload, compliance is a major hindrance in achieving optimal therapeutic results. The availability of oral iron chelation with deferiprone (L1) is useful but shows poor efficacy when used alone as compared to DFX. We observed that inspite of rising serum ferritin, these patients benefit by an improvement in the myocardial performance parameters indicating a cardioprotective effect of L1 inspite of worsening of transfusional iron overload. Aim: To study the cardioprotective efficacy of L1 in a prospective study over one year in beta thalassemia major patients with transfusional overload by echocardiography. Methods: We studied 23 patients [M:F;12:11] with beta thalassemia major (Mean age + SD, 19.48 + 5.02; Range 13–32 years) attending the Day Care unit for regular transfusional support. They received packed red cells every 3–4 weeks to maintain pre-transfusion hemoglobin concentration above 9 g/dl. They had been receiving DFX at a daily dose of 40mg/kg/day by subcutaneous infusion for 8–10 hrs on 4–5 nights each week for past several years. However, due to various reasons, they had developed considerable transfusional iron overload and could not continue to use DFX owing to poor compliance. These patients were allocated to prospectively receive therapy with oral iron chelator L1 [Deferiprox-APOTEX] at 75mg/kg body weight in three divided doses with food after informed consent. They were observed and examined regularly at monthly intervals when they came for regular blood transfusions. Cardiac evaluation was performed with a yearly assessment of ECG and echocardiography. Iron overload assessment was performed by serial serum ferritin levels every two months. It being an acute phase reactant, ESR and C-reactive protein were also estimated whenever needed to validate the utility of ferritin levels as a marker of iron overload. Results: Over the one year study period, the mean serum ferritin rose dramatically from 5209 ng/ml to 6792 ng/ml (p<0.004;paired t test). Interestingly, over the same period there was a significant improvement in the myocardial function as assessed by the Ejection fraction which improved from 68.22% to 73.87% (p<0.0001) and Fractional shortening which also rose from 33.45% to 37.44% (p<0.0001). Improved myocardial performance inspite of progressive worsening of iron overload with Deferiprone therapy for one year[n=23] SF Pre L 1 SF After one year EF Pre L 1 EF After one year FS Pre L 1 FS After one year SF-Serum Ferritin ng/ml;EF-Ejection Fraction%;FS-Fractional Shortening% Mean 5209 6791 68.22 73.87 33.45 37.45 ±SD 2638 4271 5.3 4.8 4.06 4.42 Range - Min 2006 3395 58 62 25.2 29.9 Range - Max 14000 20000 75 88 42 51.1 Students paired ‘t’ test p<0.004 p<0.0001 p<0.0001 Summary/Conclusion: The study emphasizes that beta thalassemia major patients with transfusional iron overload who receive L1 at 75 mg/kg/day as their main chelation therapy show progressive iron overloading. However, inspite of this there is a silver lining is as much as that this treatment has a significant cardio protective effect as shown by the improvement in the echocardiographic parameters of myocardial performance in these patients under study.

scholarly journals Major Depression in Children with β-Thalassemia Major is Strongly Associated with the Number of Blood Transfusions, Iron Overload and Increased Levels of Interleukin-1β

2019 ◽  
Author(s):  
Hussein Kadhem Al-Hakeim ◽  
Asawer Hassan Najm ◽  
Arafat Hussein Al-Aldujaili ◽  
Michael Maes
Keyword(s):  
Iron Overload ◽  
Inflammatory Responses ◽  
Iron Status ◽  
Thalassemia Major ◽  
Treatment Modalities ◽  
Beta Thalassemia ◽  
Blood Transfusions ◽  
Healthy Children ◽  
Beta Thalassemia Major ◽  
Increased Risk

Beta-thalassemia major (β-TM) patients are treated with repeated blood transfusions, which may cause iron overload (IO), which in turn may induce immune aberrations. Patients with β-TM have an increased risk of major depressive disorder (MDD). The aims of the present study are to examine whether repeated blood transfusions, IO and immune-inflammatory responses are associated with MDD in children (6-12 years) with β-TM. The Children’s Depression Inventory (CDI), iron status (serum iron, ferritin, transferrin, TS%) and serum levels of CCL11, IL-1β, IL-10, and TNF-α were measured in β-TM with (n=54) and without (n=57) MDD and in healthy children (n=55). The results show that MDD in β-TM is associated with a greater number of blood transfusions, increased IO and IL-1β levels. Partial Least Squares path analysis shows that 68.8% of the variance in the CDI score is explained by the number of blood transfusions, IO, and increased levels of IL-1β and TNF-α. The latter two cytokines partly mediate the effects of IO on the CDI score, while the effects of blood transfusions on the CDI score are partly mediated by IO and the path from IO to immune activation. IO is also associated with increased IL-10 and lower CCL11 levels but these alterations are not significantly associated with MDD. In conclusion, blood transfusions may be causally related to MDD in β-TM children and their effects are in part mediated by increased IO and the consequent immune-inflammatory response. The results suggest that not only IO and its consequences including inflammation and ferroptosis, but also other factors related to the number of transfusions may cause MDD including psychosocial stressors. Current treatment modalities with folic acid and vitamin C are insufficient to attenuate IO and immune-inflammatory responses and to prevent MDD is children with β-TM undergoing blood transfusions.

Monitoring Cardiac Siderosis in Patients with Beta-Thalassemia Major on Various Chelation Regimens,

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 3177-3177
Author(s):  
Srikanth R. Ambati ◽  
Rachel Randolph ◽  
Kevin Mennitt ◽  
Dorothy A Kleinert ◽  
Patricia Giardina
Keyword(s):  
Iron Overload ◽  
Serum Ferritin ◽  
Iron Concentration ◽  
Iron Chelation ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Liver Iron ◽  
Beta Thalassemia Major ◽  
Cardiac Siderosis ◽  
Hepatic Iron Overload

Abstract Abstract 3177 Background: Patients with Beta-thalassemia major develop progressive iron overload in various organs. Cardiac siderosis is a major cause of mortality and morbidity in these patients, and also poses a significant treatment challenge. Methods: We have reviewed 101 beta-thalassemia major patients 39 Male (M) 62 Female (F) with a mean age of 27.9 (range: 2 to 60 years). All received regular transfusions to maintain pre transfusion Hb levels of 9 to10 gm/dl and all received iron chelation initially with deferoxamine (DFO) and subsequently treated with deferasirox (DFX) or deferiprone (DFP) in combination with DFO. Each patient was monitored yearly for iron excess by hepatic and cardiac magnetic resonance imaging (MRI) T2*. They were also assessed with monthly evaluations for liver and renal function (Bili, AST, ALT, BUN, Creatinine), serum ferritin, CBC (or weekly if on DFP), and urinalysis. Annual EKG, ECHO, hearing and vision testing and endocrine evaluations were also performed. The patients were grouped according to the severity of cardiac siderosis. Mild to moderate cardiac siderosis was defined as a T2* 12–20 msec and severe cardiac siderosis T2*≤ 11 msec. Annual studies were compared using paired student T test and repeated measures Analysis Of Variance (ANOVA) when necessary. Patient population: Twenty one of the 101 patients (7M and 14F) with a mean age of 30.6 yr, age range 15 to 56 yr, had abnormal cardiac T2* of <20 msec and three or more subsequent annual cardiac T2* measurements. Thirteen patients, 3 M 10 F with a mean age of 33 (range: 19 to 60), had severe cardiac siderosis and 8 patients, 3 M 5 F with mean age of 38 (range: 25 to 49), had mild-moderate cardiac siderosis. During the course of the observation their iron chelation therapy was optimized to reduce serum ferritin levels < 1500 μg/dl and to reduce or maintain liver iron concentration (LIC) ≤ 7 mg/gm dw. Data analysis: At the time of their first annual MRI study (baseline), 8 patients were on DFO of which 6 were switched to DFX, 13 patients were on DFX, 11 patients were dose escalated on DFX, and 4 patients were switched to combination chelation with DFO and DFP. At baseline, patients with severe cardiac siderosis had a mean cardiac T2* level = 7.4 ± 0.47 SEM (range: 4.6 to 11msec). Over the treatment course of 6 years annual cardiac T2* levels consistently improved and by 6 years cardiac T2* reached a mean level =14.3 ±1.5 SEM (range: 12 to 17 ms) (Fig 1). Those patients who at baseline had a mild to moderate cardiac siderosis with mean cardiac T2* of 14.6 ± 1.02 SEM (range: 12 to 19 msec) improved by 3 years of treatment when they achieved a mean cardiac T2* of 26.3 ± 3.4 SEM (range of 16 to 42 msec) (Fig 2). Liver iron concentration (LIC) was measured annually by MRI. Initially the majority, 16 out of 21 of patients, had hepatic iron overload LIC ≤ 10 mg/ gm dw of whom 56% (9 of the 16) had severe cardiac siderosis. 5 of 21 patients had a LIC > 15 mg/ gm dw of whom 80% (4 out of 5) patients had severe cardiac siderosis (Fig 3). Patients with LIC ≤10 mg/ gm dw had ferritin levels ranging from 166 to 3240 μg/ dl and patients with LIC >15 mg/ gm dw had elevated serum ferritin levels of 1180 to 17,000 μg/ dl. Patients with severe cardiac siderosis had mean MRI ejection fraction (EF)= 55.8% (range: 31 to 70%) while patients with mild to moderate cardiac siderosis had mean MRI EF= 60% (range: 53 to 66%). One patient with severe cardiac siderosis was recovering from symptomatic congestive heart failure. Conclusion: Cardiac siderosis can be noninvasively diagnosed utilizing MRI T2* techniques and subsequently to monitor treatment. The majority of patients improve cardiac T2* over time with optimal chelation therapy. Severe cardiac siderosis occurs even with mild to moderate hepatic iron overload. Left ventricular EF may not predict severe cardiac siderosis. Therefore it is important to annually monitor cardiac siderosis with MRI T2*. Disclosures: No relevant conflicts of interest to declare.

Efficient Iron Chelation Resulting in Improved Myocardial Performance with Combined Desferrioxamine and Deferiprone in Beta Thalassemia Major Patients.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 3766-3766 ◽  
Author(s):  
Anil V. Pathare ◽  
Shahina Daar ◽  
Salam Al Kindi ◽  
J. David Dennison
Keyword(s):  
Combination Therapy ◽  
Iron Overload ◽  
Serum Ferritin ◽  
Iron Chelation ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Myocardial Performance ◽  
Beta Thalassemia Major ◽  
The Mean ◽  
To Receive

Abstract Background: Iron overload is the main cause of morbidity and mortality especially from heart failure in patients with beta thalassemia major [TM]. Successful iron chelation is thus essential for the optimal management of TM. Although desferrioxamine [DFX] has been the major iron-chelating treatment of transfusional iron overload, compliance is a major hindrance. The availability of oral iron chelation with deferiprone [L1] since 1987 was welcome but showed poor efficacy when used alone as compared to DFX. Aim: To compare DFX and prospective combined therapy with DFX and L1 in beta thalassemia major patients with iron overload. Methods: We studied 69 patients with beta thalassemia major (Mean age ± SD, 15.02± 5.8; Range 4–28 years) attending the Day Care unit for regular transfusional support. They received packed red cells every 3–4 weeks to maintain pre-transfusion hemoglobin concentration above 9 g/dl. They were receiving DFX at a daily dose of 40mg/kg/day by subcutaneous infusion for 8–10 hrs on 4–5 nights each week for past several years. However, owing to various reasons, they developed considerable transfusional iron overload. These patients were enrolled prospectively to receive additional therapy with oral iron chelator L1 at 75 mg/kg body weight in three divided doses with food after informed consent and also continued to receive treatment with DFX as per the above dosage. Results: Of the 69 patients, 6 developed severe GI upset, 2 developed persistently raised liver enzymes, 2 died [sepsis], two underwent bone marrow transplantation and 2 developed agranulocytosis and so did not continue in the study. In the remaining 55 evaluable patients, [3–48 months on combination therapy; mean(±SD) 22±12 months] the mean serum ferritin(±SD) fell dramatically from 3088(±1299) [DFX alone] to 2051(±935)ng/ml [DFX+L1; p<0.001], with the mean of lowest serum ferritin being 1731(±828) ng/ml in this group. Interestingly, there was also a significant improvement in the Ejection fraction [p<0.004]and Fractional shortening[p<0.0436] in these patients. Sustained successful iron chelation on combination therapy Ferritin pretherapy[DFX] 6mths[DXF+L1] 12 mths [DXF+L1] 18mths [DXF+L1] 24mths [DXF+L1] 36mths [DXF+L1] 48 mths [DXF+L1] No of Patients n=55 n=54 n=42 n=32 n=24 n=12 n=7 Mean± SD 3088±1299 2530±1221 2495±1175 2433±1154 2165±889 1686±917 997±318 Range-Max 7534 6070 5559 5126 4130 3172 1471 Range-Min 1072 599 776 408 712 473 559 Students t test[DFX v/s DFX+L1] p<0.0001 p<0.0001 p<0.0001 p<0.0001 p<0.0001 p<0.0001 Improved myocardial performance on combination therapy Pretherapy [DFX] Combination Therapy [DFX+L1] p value Ejection Fraction [%] 69.04±5.182 72.99±5.54 p<0.0004 Fractional Shortening [%] 32.19±4.32 34.89±5.4 p<0.0436 Summary/Conclusion: The study emphasizes that beta thalassemia major patients with transfusional iron overload can be successfully treated with a combination of DFX and L1. The results also demonstrate significant statistical improvement as early as 6 months of combination therapy. Furthermore, this improvement was sustained leading to a progressive fall in the mean serum ferritin. Lastly, the study also demonstrates significant improvement in echocardiographic parameters of myocardial performance in these patients receiving combination therapy.

scholarly journals Assessment of Subclinical Renal Glomerular and Tubular Dysfunction in Children with Beta Thalassemia Major

Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 100
Author(s):  
Asmaa A. Mahmoud ◽  
Doaa M. Elian ◽  
Nahla MS. Abd El Hady ◽  
Heba M. Abdallah ◽  
Shimaa Abdelsattar ◽  
...  
Keyword(s):  
Cystatin C ◽  
Kidney Injury ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Good Survival ◽  
Control Group ◽  
Healthy Children ◽  
Serum Cystatin C ◽  
Serum Cystatin ◽  
Beta Thalassemia Major

Background: A good survival rate among patients with beta thalassemia major (beta-TM) has led to the appearance of an unrecognized renal disease. Therefore, we aimed to assess the role of serum cystatin-C as a promising marker for the detection of renal glomerular dysfunction and N-acetyl beta-D-glucosaminidase (NAG) and kidney injury molecule 1 (KIM-1) as potential markers for the detection of renal tubular injury in beta-TM children. Methods: This case-control study was implemented on 100 beta-TM children receiving regular blood transfusions and undergoing iron chelation therapy and 100 healthy children as a control group. Detailed histories of complete physical and clinical examinations were recorded. All subjected children underwent blood and urinary investigations. Results: There was a significant increase in serum cystatin-C (p < 0.001) and a significant decrease in eGFR in patients with beta-TM compared with controls (p = 0.01). There was a significant increase in urinary NAG, KIM-1, UNAG/Cr, and UKIM-1/Cr (p < 0.001) among thalassemic children, with a significant positive correlation between serum cystatin-C, NAG and KIM-1 as regards serum ferritin, creatinine, and urea among thalassemic patients. A negative correlation between serum cystatin-C and urinary markers with eGFR was noted. Conclusion: Serum cystatin-C is a good marker for detection of glomerular dysfunction. NAG and KIM-1 may have a predictive role in the detection of kidney injury in beta-TM children.

scholarly journals Relationship between Vitamin B9 (Folic Acid), Vitamin B12 (Cobalamin), and Peripheral Neuropathy in Children with Beta-Thalassemia Major

2021 ◽  
Vol 9 (2) ◽  
Author(s):  
Uni Gamayani ◽  
Titin Junaidi ◽  
Nushrotul Lailiyya ◽  
Nur Suryawan ◽  
Nanan Sekarwana
Keyword(s):  
Folic Acid ◽  
Peripheral Neuropathy ◽  
Vitamin B12 ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Control Group ◽  
Case Group ◽  
Beta Thalassemia Major ◽  
Vitamin B9 ◽  
Significant Difference

Vitamin B9 (folic acid) and B12 (cobalamin) are essential vitamins that play roles in the process of hematopoiesis and maintaining the function of peripheral nerves. Therefore, these deficiencies may create a risk for peripheral neuropathy in beta-thalassemia major patients. The purpose of this study is to determine the relationship between vitamin B9 level, vitamin B12 level, and peripheral neuropathy in beta-thalassemia major children. It was an observational analytical study with a case-control design has been conducted at Dr. Hasan Sadikin General Hospital Bandung, Indonesia, in May–July 2019. There were 47 beta-thalassemia major children with peripheral neuropathy (case) and 41 healthy children (control). All subjects completed a general demographic questionnaire, underwent neurological examination, and were tested for vitamin B9 and B12 serum levels. Data were then analyzed using the unpaired t test to compare the vitamin levels between both groups and Spearman’s rank correlation test to investigate the correlation between vitamin levels and the number of affected nerves in the case group. Comparison of folic acid levels in the case group (21.52±6.22 ng/mL) and the control group (23.81±7.51 ng/mL) showed no significant difference (p=0.19). In contrast, cobalamin in the case group (288.57±168.61 ng/mL) and the control group (385.95±197.48 ng/mL) showed a significant difference (p=0.01). In addition, there was a moderate correlation (p=0.004, r=0.41) between folic acid level and the number of motoric nerves affected in the case group. In conclusion, cobalamin level correlates with peripheral neuropathy in beta-thalassemia major patients, and folic acid level correlates with the number of affected nerves, especially motoric nerves. HUBUNGAN ANTARA VITAMIN B9 (ASAM FOLAT), VITAMIN B12 (KOBALAMIN), DAN NEUROPATI PERIFER PADA ANAK DENGAN TALASEMIA BETA MAYORVitamin B9 (asam folat) dan B12 (kobalamin) merupakan vitamin esensial yang berperan dalam proses hematopoiesis dan menjaga fungsi saraf tepi. Defisiensi vitamin ini dapat menimbulkan risiko neuropati perifer pada pasien talasemia beta mayor. Tujuan penelitian ini mengetahui hubungan antara kadar vitamin B9, vitamin B12, dan neuropati perifer pada anak talasemia beta mayor. Metode penelitian ini adalah analitik observasional dengan rancangan studi kasus kontrol yang dilakukan di RSUP Dr. Hasan Sadikin Bandung, Indonesia pada Mei–Juli 2019. Terdapat 47 anak talasemia beta mayor dengan neuropati perifer (kelompok kasus) dan 41 anak sehat (kelompok kontrol). Seluruh subjek penelitian mengisi kuesioner demografi umum, menjalani pemeriksaan fisis neurologis, serta dilakukan tes kadar vitamin B9 dan B12 serum. Uji t test tidak berpasangan digunakan untuk membandingkan kadar vitamin pada kedua kelompok dan uji korelasi Spearman untuk membandingkan kadar kedua vitamin tersebut dengan jumlah saraf yang terkena pada kelompok kasus. Perbandingan kadar asam folat kelompok kasus (21,52±6,22 ng/mL) dan kelompok kontrol (23,81±7,51 ng/mL) menunjukkan perbedaan yang tidak bermakna (p=0,19), sedangkan perbandingan kadar kobalamin kelompok kasus (288,57±168,61 ng/mL) dan kelompok kontrol (385,95±197,48 ng/mL) menunjukkan perbedaan yang bermakna (p=0,01). Selain itu, terdapat korelasi sedang (p=0,004; r=0,41) antara kadar asam folat dam jumlah saraf motorik yang terkena pada kelompok kasus. Kesimpulan, kadar kobalamin berhubungan dengan neuropati perifer pada penderita talasemia beta mayor dan kadar asam folat berhubungan dengan jumlah saraf yang terkena, terutama saraf motorik.

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