Thalassemia Major in a Patient with Hypertriglyceridemia

Letter to Editor

Authors

1 Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

2 Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

3 Hematology and Oncology Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

Abstract

Dear editor,
We reported a case titled “A Case Report of Familial Chylomicronemia Syndrome” published in The World J Peri & Neonatol 2020; 3(2): 90-3. Hypercylomicronemia is a rare autosomal recessive metabolic disorder characterized by elevated levels of triglycerides and chylomicrons in the blood and is associated with a high risk of acute pancreatitis and other complications such as cardiovascular disease.1-3
    On the other hand, the most common inherited hemoglobin disorder around the world is thalassemia.4 Lifelong red blood cell transfusions and iron chelation therapy are required to prevent complications of β-thalassemia major due to iron overload.5 It is usually associated with a normal serum lipid profile. However, there are a few reports in literature stating that hypertriglyceridemia has an association with beta-thalassemia major.6,7
    The case introduced in our article was a patient with hyperchylomicronemia. We first justified her laboratory data and clinical signs according to her hyperchylomicronemia, and treated the patient. The patient follow-up revealed triglyceride in normal range from proper control of chylomicronemia. However, the patient's severe anemia persisted and she required frequent blood transfusions. Considering the patient's condition, we tried to investigate more accurately to determine the cause of the prolonged anemia. Reexamination and general condition of the patient raised suspicion of thalassemia major. As shown in Table 1, genetic test confirmed a definitive diagnosis of thalassemia major on finding only the thalassemia major gene.
     Moreover, our previous clinical and laboratory examination were suggestive of familial chylomicronemia syndrome. There exists a controversy on the relationship between hypertriglyceridemia and thalassemia major.8,9 We are not also sure if these two diseases are unrelated or should be noted as a syndrome.

Keywords

References

1. Falko JM. Familial chylomicronemia syndrome: A clinical guide for endocrinologists. Endocr Pract 2018; 24(8): 756-63.
2. Chen YH, Ke ZL, Wang YX, Wang Y, Zheng YZ. Two case reports of familial chylomicronemia syndrome. Case Rep Pediatr 2012; 2012: 384719.
3. Kolovou G, Kolovou V, Katsiki N. Volanesorsen: A new era in the treatment of severe hypertriglyceridemia. J Clin Med 2022; 11(4): 982.
4. Thatikonda KB, Kalra M, Sachdeva P, Ranjan V, Sachdeva A. Uncommon association of hypertriglyceridemia and autoimmune haemolytic anaemia in an infant with transfusion dependent thalassemia. Pediatr Hematol Oncol J 2021; 6(2): 110-2.
5. Kattamis A, Forni GL, Aydinok Y, Viprakasit V. Changing patterns in the epidemiology of β-thalassemia. Eur J Haematol 2020; 105(6): 692-703.
6. Pandey S, Agrawal P, Rawat A, Gupta M, Khare P. Hypertriglyceridemia in a baby with thalassemia major. Indian J Med Spec 2020; 11(3): 157-60.
7. Tanwar GS, Garg V, Kumar A, Renu CC, Kumar. Idiopathic hypertriglyceredemia associated with thalassemia major. Nov Sci Int J Med Sci 2012; 1(7): 232-4.
8. Ameri MR, Alebouyeh M, Ziai M, Conn RB. Letter: Hypertriglyceridemia in homozygous beta thalassemia. J Pediatr 1975; 87(6 Pt 1): 1002-3.
9. Khera R, Singh M, Goel G, Gupta P, Singh T, Dubey AP. Hypertriglyceridemia thalassemia syndrome: a report of 4 cases. Indian J Hematol Blood Transfus 2014; 30(Suppl 1): 288-91.
World Journal of Peri and Neonatology
Volume 5, Issue 1
July 2022
Pages 1-2

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History

  • Receive Date: 06 August 2022
  • Accept Date: 06 August 2022
  • First Publish Date: 06 August 2022

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