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

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.