Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte

Choi, Hyoung Soo; Choi, Qute; Kim, Jung-Ah; Im, Kyong Ok; Park, Si Nae; Park, Yoomi; Shin, Hee Young; Kang, Hyoung Jin; Kook, Hoon; Kim, Seon Young; Kim, Soo-Jeong; Kim, Inho; Kim, Ji Yoon; Kim, Hawk; Park, Kyung Duk; Park, Kyung Bae; Park, Meerim; Park, Sang Kyu; Park, Eun Sil; Park, Jeong-A; Park, Jun Eun; Park, Ji Kyoung; Baek, Hee Jo; Seo, Jeong Ho; Shim, Ye Jee; Ahn, Hyo Seop; Yoo, Keon Hee; Yoon, Hoi Soo; Won, Young-Woong; Lee, Kun Soo; Lee, Kwang Chul; Lee, Mee Jeong; Lee, Sun Ah.; Lee, Jun Ah; Lee, Jae Min; Lee, Jae Hee; Lee, Ji Won; Lim, Young Tak; Jung, Hyun Joo; Chueh, Hee Won; Choi, Eun Jin; Jung, Hye Lim; Kim, Ju Han; Lee, Dong Soon

doi:10.1186/s13023-019-1070-0

Orphanet Journal of Rare Diseases

Table 2 Gene mutations, laboratory tests and clinical characteristics

From: Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte

Patient ID	Membrane gene mutation	Other mutation	OFT	PB spherocytes	Splenectomy	Family history of HS	Severity of HS	Additional tests with positive results
1	SPTB, EPB41	UGT1A1	NA	♦			▲▲▲	SDS-PAGE (Spectrin)
2	ANK1		+	♦♦♦		(HA, father)	▲▲
3	SPTB		NA	♦♦		AD	▲▲▲	Flow cytometry^a
4	SPTB	UGT1A1	+	♦♦			▲▲
5			+	♦♦	●	AD	▲▲▲	SDS-PAGE (Spectrin)
6	ANK1		–	♦♦	●		▲▲▲	SDS-PAGE (Spectrin)
7	SPTB		+	♦			▲▲▲
8	SPTB, SPTA1		+	♦		AD	▲▲▲
9	SPTB, SPTA1		NA	♦		AD	▲▲▲	Flow cytometry^a
10			+	♦♦	●	(HA, mother)	▲▲▲
11^c	SPTB	UGT1A1	NA	♦♦♦			▲▲▲
12	ANK1		+	♦♦	●		▲▲▲
13	SPTB	UGT1A1	+	♦			▲▲
14			+	♦	●	AD	▲▲▲
15	ANK1 ^b		NA	♦♦		AD	▲▲	SDS-PAGE (Spectrin)
16	ANK1 ^b	UGT1A1	NA	♦♦♦		AD	▲▲▲
17		UGT1A1	+	♦♦♦			▲▲
18	ANK1		NA	♦♦♦		AD	▲▲▲
19	ANK1	UGT1A1, UGT1A1	+	♦♦			▲▲
20	SPTB, SPTA1	UGT1A1	–	♦♦		AD	▲▲▲
21^c	SLC4A1 ^b	UGT1A1	NA	–		(HA, sibling)	▲▲
22		UGT1A1	+	♦		AD	▲▲▲
23	SPTB		+	♦♦♦		AD	▲▲▲
24		UGT1A1	+	♦♦		(HA, mother)	▲▲▲
25^c	ANK1 ^b		NA	♦♦♦			▲▲
26	ANK1		+	♦♦♦	●	AD	▲▲
27	ANK1		+	♦			▲▲▲
28	SPTB		+	♦♦	●	AD	▲▲
29	ANK1 ^b	GSR	+	♦♦			▲▲
30	SPTB	ALDOB	+	♦♦♦			▲▲
31^c	SPTB	–	NA	♦♦♦			▲▲▲
32	SLC4A1 ^b	UGT1A1, UGT1A1	+	♦♦♦			▲▲
33	SPTB	UGT1A1	+	♦♦	●		▲▲▲
34	SPTB	–	–	♦		AD	▲▲
35	SPTB ^b , EPB42	UGT1A1	+	–			▲▲	Autohemolysis
36	SPTB		+	♦♦	●		▲▲
37	ANK1		+	♦♦	●		▲▲
38		UGT1A1	+	♦			▲	SDS-PAGE (Spectrin)
39^c	ANK1	UGT1A1	–	♦			▲
40	SPTB		+	♦♦	●		▲▲▲
41	ANK1		+	♦♦♦			▲
42	ANK1		+	♦♦			▲▲▲
43^c	ANK1, ANK1	UGT1A1	NA	♦			▲▲
44	SPTB,ANK1	UGT1A1	+	♦			▲▲
45	ANK1	UGT1A1	+	♦♦♦			▲▲
46	SPTB	UGT1A1	+	♦♦♦			▲▲
47	SPTB		+	♦		(HA, sibling)	▲▲▲
48^c	SPTB ^b		NA	♦			▲▲▲
49^c	SPTB	UGT1A1	+	–			▲▲
50	ANK1		+	–		AD	▲▲
51	SPTB	UGT1A1	+	♦		AD	▲▲
52			+	♦♦			▲▲
53	ANK1		+	♦			▲
54			–	–	●	AD	▲▲▲
55	SPTB		–	♦♦♦		AD	▲
56	SLC4A1	UGT1A1, GAPDH	+	♦			▲
57	SPTB		+	♦♦♦		AD	▲▲▲
58	SPTB	UGT1A1	+	♦♦		AD	▲▲
59	SPTB		+	♦			▲▲▲

^aFlow cytometry (OFT and EMA binding test), ^bPreviously reported variants (see Additional file 1: Table S3), ^cEight patients who did not meet the diagnostic criteria of HS without genetic testing
PB spherocytes [20] ♦, 1+; ♦♦, 2+; ♦♦♦, 3+, Severity of HS [8] ▲, mild; ▲▲, moderate; ▲▲▲, severe
Abbreviations: AD autosomal dominant, ALDOB aldolase B, ANK1 ankyrin 1, EPB41 erythrocyte membrane protein band 4.1, EPB42 erythrocyte membrane protein band 4.2, GAPDH glyceraldehyde-3-phosphate dehydrogenase, GSR glutathione reductase, HA hemolytic anemia, SLC4A1 solute carrier family 4, member 1, SPTA1 spectrin, alpha 1, SPTB spectrin, beta, UGT1A1, UDP glycosyltransferase 1 family, polypeptide A1, OFT osmotic fragility test, NA not assessable

Back to article page

ISSN: 1750-1172

Contact us

Submission enquiries: Access here and click Contact Us
General enquiries: info@biomedcentral.com