Clinical course and management of hypertriglyceridemia thalassemia syndrome: A case-based systematic review

Table 1 Inclusion and exclusion criteria

Criteria	Classifications
Inclusion criteria	Diagnosis of thalassemia disease, including both α- and β-thalassemia
	Evidence of hypertriglyceridemia1
	Availability of data on clinical course, treatment, and outcome data
Exclusion criteria	Diagnosis of other hemoglobinopathies or sickle cell disease
	Presence of other causes of hypertriglyceridemia
	Incomplete information regarding clinical courses, treatment, or outcomes
	Unavailability of full-text articles

¹Serum triglyceride level of ≥ 100 mg/dL for children aged 0 year to 9 years and ≥ 130 mg/dL for children aged 10 years to 19 years.

Table 2 Demographics, treatments, and outcomes of previously reported cases with hypertriglyceridemia thalassemia syndrome

Ref.	Age (months), sex	Ethnicity	Diagnosis, mutation(s)	Clinical manifestations, comorbidity	Hb (g/dL)	TG (mg/dL)	Treatment	Clinical course
								Hyper TG	Outcome, follow up (months)
Rao et al[6], 1972	12, male	India	BTM	Pallor, lipemia retinalis	NA	1057	Transfusion	I	Alive, 0.3
Desai et al[10], 1973	5, female	India	BTM	Pallor, xanthomas, lipemia retinalis, HSM	3.5	2520	Transfusion, diet control	I	Alive, 0.2
	6, male	India	BTM	Pallor, xanthomas, lipemia retinalis, HSM	5.8	2140	Transfusion, diet control	I	Dead (infection), 0.8
Jaiswal et al[11], 1974	11, female	India	BTM	FG, pallor, xanthomas, lipemia retinalis, HSM	4.5	2200	Diet control	I	Dead (infection), 3
	30, male	India	BTM	FG, pallor, lipemia retinalis, HSM	6.5	2400	Diet control	I	Dead (infection), 2
Ameri et al[12], 1975	11, female	Iran	BTM	FG, pallor, hip subluxation	4.4	633	Transfusion, diet control, UFH	R	Alive, 0.9
Ameri et al[13], 1977
Seervai et al[14], 1976	15, female	India	BTM	Pallor, HSM	5.5	1875	Transfusion, diet control	I	Alive
	5, female	India	BTM	Pallor, jaundice, lipemia retinalis, HSM, rickets	5.2	1633	Transfusion, diet control	I	Alive
Gomber et al[15], 1996	4, male	India	BTM	Fever, dyspnea, pallor, lipemia retinalis, HSM	6	1137	Transfusion, antibiotics	I	Dead (anemia, CHF), 1
Das et al[16], 2016	7, male	India	BTM, hmz. HBB: c.92 + 5G>C	FG, pallor, HSM	5.3	1805	Transfusion	I	Alive, 0.4
Mohan et al[17], 2017	7, female	India	BTM	FG, pallor, jaundice, HSM	6.6	871	Transfusion	R	Alive, TD
Jain et al[18], 2018	8, female	India	BTM	FG, pallor, SM	7.7	1149	Transfusion	R	Alive
Mahajan and Dewan[19], 2020	6, female	India	BTM	Pallor, HSM	7.8	823	Transfusion, folic acid	R	Alive, TD
Thatikonda et al[20], 2021	9, male	India	BTM	Dyspnea, pallor, jaundice, HSM, AIHA	3.2	874	Transfusion, MP	I	Alive, TD, 2.7
Mohd Kasim et al[21], 2023	12, female	Malaysia	β/E	FG, pallor, HSM	7.2	802	Transfusion	I	Alive
Kapat et al[7], 2024	6, male	India	β/E, HBB: c.92 + 5G>C and HBB: c.79G>A (p.Glu27 Lys)	FG, pallor	4.7	890	Transfusion	R	Alive, TD, 12
	9, male	India	BTM, hmz. HBB: c.92G>C (p.Arg31Thr)	FG, pallor, SM	6.1	750	Transfusion	R	Alive, TD, 12
	24, female	India	BTM, hmz. HBB: c.92 + 5G>C	Pallor, jaundice, HSM	5.7	850	Transfusion	R	Alive, TD, 12
	14, male	India	BTM, hmz. HBB: c.126_129del (p.Phe42fs)	Pallor, HSM	4.6	1150	Transfusion	R	Alive, TD, 12
	11, female	India	β/E, HBB: c.92 + 5G>C and HBB: c.79G>A (p.Glu27 Lys)	Pallor, HSM	2.9	660	Transfusion	R	Alive, TD, 12
	13, female	India	BTM, hmz. HBB: c.126_129del (p.Phe42fs)	Pallor, SM	5.5	1200	Transfusion	R	Alive, TD, 12
	14, male	India	β/E, HBB: c.92 + 5G>C and HBB: c.79G>A (p.Glu27 Lys)	Pallor, HSM	5.9	980	Transfusion	R	Alive, TD, 12
	14, male	India	β/E, HBB: c.92 + 5G>C and HBB: c.79G>A (p.Glu27 Lys)	FG, pallor, HSM	4.1	1040	Transfusion	R	Alive, TD, 12
	19, male	India	β/E, HBB: c.92 + 5G>C and HBB: c.79G>A (p.Glu27 Lys)	Pallor, jaundice, HSM	3.3	880	Transfusion	R	Alive, TD, 12
	11, male	India	BTM, hmz. HBB: c.92 + 5G>C	Pallor, jaundice, HM	3.1	650	Transfusion	R	Alive, TD, 12
	12, female	India	BTM, hmz. HBB: c.92 + 5G>C	FG, pallor, SM	6	720	Transfusion	R	Alive, TD, 12
	8, female	India	BTM, hmz. HBB: c.126_129del (p.Phe42fs)	Pallor, SM	5.9	530	Transfusion	R	Alive, TD, 12
This study	6, female	Thailand	BTM, hmz. HBB: c.126_129del (p.Phe42fs)	Pallor, HSM	4.9	662	Transfusion, folic acid	I	Alive, TD, 48

Hb: Hemoglobin; TG: Triglyceride; Hyper TG: Hypertriglyceridemia; AIHA: Autoimmune hemolytic anemia; β/E: Hemoglobin E/β-thalassemia; BTM: β-thalassemia major; CHF: Congestive heart failure; FG: Faltering growth; HM: Hepatomegaly; hmz: Homozygous; HSM: Hepatosplenomegaly; I: Improved; R: Resolved; MP: Methylprednisolone; NA: Not available; SM: Splenomegaly; TD: Transfusion-dependent; UFH: Unfractionated heparin.