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Table of Contents
Year : 2020  |  Volume : 11  |  Issue : 3  |  Page : 157-160

Hypertriglyceridemia in a baby with thalassemia major

1 Department of Pathology, Dr. Baba Saheb Ambedkar Medical College and Hospital, New Delhi, India
2 Department of Biochemistry, Dr. Baba Saheb Ambedkar Medical College and Hospital, New Delhi, India
3 Department of Biochemistry, Government Medical College, Kathua, Jammu and Kashmir, India

Date of Submission11-Dec-2019
Date of Decision28-Jan-2020
Date of Acceptance30-Jan-2020
Date of Web Publication05-Mar-2020

Correspondence Address:
Dr. Poonam Agrawal
Department of Biochemistry, Dr Baba Saheb Ambedkar Medical College and Hospital, New Delhi - 110 085
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/INJMS.INJMS_150_19

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Thalassemia is the most common inherited hemoglobin disorder around the world. It is usually associated with normal serum lipid profile. However, there are a few reports in literature that hypertriglyceridemia has an association with beta-thalassemia major. We report a case of hypertriglyceridemia associated with beta-thalassemia major, in a 9-month-old female baby.

Keywords: Lipid disorders, infant, haemoglobinopathy, serum triglycerides

How to cite this article:
Pandey S, Agrawal P, Rawat A, Gupta M, Khare P. Hypertriglyceridemia in a baby with thalassemia major. Indian J Med Spec 2020;11:157-60

How to cite this URL:
Pandey S, Agrawal P, Rawat A, Gupta M, Khare P. Hypertriglyceridemia in a baby with thalassemia major. Indian J Med Spec [serial online] 2020 [cited 2023 Jan 30];11:157-60. Available from: http://www.ijms.in/text.asp?2020/11/3/157/280109

  Introduction Top

The association of hypertriglyceridemia with thalassemia has been rarely reported in literature. Hereby, we report a case of thalassemia major which is associated with hypertriglyceridemia. This case report will help sensitize clinicians regarding the possibility of altered lipid profile in cases of thalassemia and early identification of dyslipidemia, and its management will help in better management of patients suffering with this devastating problem.

  Case Report Top

A 9-month-old female baby, born of consanguineous marriage, was referred to us from a local hospital with the complaints of pallor and failure to thrive. She was delivered by normal vaginal delivery at full-term gestation. The birth weight was 2.3 kg. She was exclusively breastfed and immunized for age. The parents noticed increasing pallor and poor weight gain for which they visited a local hospital, from where she was referred to our hospital to carry out further investigations.

After taking detailed history from the informant who was the mother in this case, a thorough general physical examination of the child was carried out. It showed the child having significant pallor. The weight (6.5 kg) and height (68 cm) were below the 3rd centile for the corresponding age and sex. The head circumference was the 75th percentile. There was no skin rash, edema, lymphadenopathy, ascites, or bleeding manifestations. Systemic examination was essentially normal except for mild hepatosplenomegaly.

Laboratory investigations

Laboratory investigations showed total white blood cell (WBC) count of 15.6 × 103/mm, polymorphs of 41, lymphocytes of 29, monocytes of 8, eosinophils of 17, myelocytes of 2, and blast/atypical cells of 3 (%). Reticulocyte count was 6%. Hemoglobin (Hb) was found to be 6.2 g/dl, and serum bilirubin was done. The total bilirubin value was 1.7 mg/dl and direct bilirubin was found to be 1.3 mg/dl. This indicated the possibility of hemolysis as a cause of raised bilirubin in the baby.

Hematocrit was 12.2%, the mean corpuscular volume was found to be 69.3 fl and the mean corpuscular hemoglobin was 45.5 pg. The total platelet count was 295 × 103/mm3.

Peripheral blood smear showed marked anisopoikilocytosis with microcytosis and few hypochromic macrocytes. Target cells and red cell inclusions (basophilic stippling and Cabot rings) were also noted with few polychromatophilic red blood cells (RBCs). Many nucleated RBCs were seen (nucleated RBCs: 320/100 WBCs).

The patient's serum was thick and milky. Serum biochemical investigations were performed. The fasting triglyceride levels were markedly raised at 2062 mg/dl (normal for breastfed infant at this age is less than 150 mg/dl). The total cholesterol and rest of the lipid profile were normal. Suspecting hypertriglyceridemia, the patient was re-examined for xanthomas, corneal arcus, or tonsillar hypertrophy, which were all absent in the patient. Other causes of secondary hypertriglyceridemia, including hypothyroidism and diabetes mellitus, were ruled out with appropriate testing.

Blood counts and peripheral blood smears of the parents, siblings, and maternal uncle showed microcytic hypochromic anemia with the presence of occasional target cells. Their serum lipid fractions were within normal limits [Table 1].
Table 1: Hematological parameters and triglyceride levels of the patients and relatives

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This was followed by high-performance liquid chromatography (HPLC) Variant II Beta-thalassemia Short Program in ethylenediaminetetraacetic acid blood samples of the baby and the relatives [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5] and [Table 2].
Figure 1: High-performance liquid chromatography of the patient

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Figure 2: High-performance liquid chromatography of the patient's father

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Figure 3: High-performance liquid chromatography of the patient's mother

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Figure 4: High-performance liquid chromatography of the patient's sister

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Figure 5: High-performance liquid chromatography of the patient's uncle

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Table 2: High-performance liquid chromatography details

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HPLC confirmed the baby as beta-thalassemia major associated with hypertriglyceridemia and relatives as thalassemia trait.

  Discussion Top

Thalassemia is a group of congenital hemoglobin disorders characterized by a deficient synthesis of globin subunits of the normal hemoglobin. The primary defect is quantitative, consisting of the reduced or absent synthesis of normal globin chains. The basic defect in beta-thalassemia is a reduced or absent production of beta-globin chains with a relative excess of alpha chains. The direct consequences are a net decrease of hemoglobin production and an imbalance of the globin chain synthesis. The former is more evident in carriers, leading to a reduction of MCH and mean cell volume, and has a minor clinical significance. The latter has dramatic effects on the red cell precursors, ultimately resulting in their extensive premature destruction in the bone marrow and in the extramedullary sites. This process is referred to as ineffective erythropoiesis and is the hallmark of beta-thalassemia. The excess alpha-chains combine with residual beta- and gamma-chains to undergo proteolysis, or associate with the erythroid precursors and red cell membrane, producing deleterious effects on erythroid maturation and survival. Hence, the main determinant of the clinical severity is the extent of the relative excess of alpha-chains in red cell precursors and hence the degree of globin chain imbalance. Alpha-chain precipitation in the red cell membrane causes structural and functional alterations with changes in deformability, stability, and red cell hydration.[1]

The Frederickson and Levy classification of primary dyslipidemia is based on the type of lipoprotein that is elevated. Type I, chylomicrons are increased; Type IIa implies elevation of low-density lipoprotein (LDL); Type IIb, elevation of both LDL and very low-density lipoprotein (VLDL); Type III, elevation of chylomicron and VLDL remnants; Type IV, elevation of VLDL; and Type V, elevation of VLDL and chylomicrons.[2]

The possibility of primary hypertriglyceridemia was ruled out by the presence of absolutely normal lipid profiles in the relatives along with a lack of other associated findings of primary hyperlipidemia such as tendon and tuberous xanthomas.[3] Hypertriglyceridemia may accompany acute, massive hemolysis.[4] The association of thalassemia major with hypertriglyceridemia has been described by some authors in India.[5],[6],[7]

Rao et al. for the first time reported a case on the similar association of hypertriglyceridemia in thalassemia major in 197,[5] while a case series of two such cases has been reported by Indira et al. in 1975.[6]

Khera et al. presented a case series of four siblings in a family who had similar findings in the year 2014.[3] Our case was a 9-month-old female presented with increasing pallor and poor weight gain, which after investigations was found to have thalassemia major with associated hypertriglyceridemia and immature white cell precursors in the smear. Although pathogenesis of such association remains obscure, when present might pose a significant risk to the thalassemic children for developing acute pancreatitis and atherosclerosis at an early age, further increasing morbidity and mortality in such cases.

  Conclusion Top

The case is being reported to emphasize the importance of screening of all children with thalassemia and other hemolytic anemias with massive hemolysis for the underlying hyperlipidemia, if any. Early detection and appropriate management avoids further complications such as pancreatitis, atherosclerosis, and myocardial infarction in such children.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his/her consent for images and other clinical information to be reported in the journal. The guardian understands that the child's name and initial will not be published, and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Pignatti CB, Galanello R. Thalassemias and Related disorders: Quantitative disorders of hemoglobin synthesis. Wintrobes Clinical Hematology. 13th ed., Vol. 13. Philadelphia: Lippincott Williams and Wilkins; 2014. p. 913-862.  Back to cited text no. 1
Tershakovec AM, Rader DJ. Disorders of Lipoprotein Metabolism and Transport. Nelson Textbook of Pediatrics. 17th ed., Vol. 17. Philadelphia: WB Saunders; 2003:459-45.  Back to cited text no. 2
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;30:288-91.  Back to cited text no. 3
Druml W, Grimm G, Laggner AN, Schneeweiss B, Lenz K. Hyperlipidemia in acute hemolysis. Klin Wochenschr 1991;69:426-9.  Back to cited text no. 4
Rao AV, Bai KI, Ramanujiah D. Hypertriglyceridaemia in thalassaemia major. J Indian Med Assoc 1972;59:15-7.  Back to cited text no. 5
Indira BK, Das NS, Subrahmanyam MV, Rama Rao AV. Thalassemia major with hypertriglyceridemia. Indian Pediatr 1975;12:929-31.  Back to cited text no. 6
Seervai MH, Merchant SM, Babar ST. Thalassemia major with idiopathic hypertriglyceridemia (type 1). Indian Pediatr 1976;13:623-8.  Back to cited text no. 7


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]

  [Table 1], [Table 2]


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