Disease #00002 (beta-thal (beta thalassemia), OMIM:613985)

Official abbreviation	beta-thal
Name	beta thalassemia
OMIM ID	613985
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	1306
Phenotype entries for this disease	1027
Associated with 1 gene	HBB
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Remarks: Remarks about the individual.

α-thal genotype: α-thal genotype

β-thal genotype: β-thal genotype

Gender: Gender

Age: Age

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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1306 entries on 14 pages. Showing entries 1 - 100.

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Individual ID	Reference	Remarks	α-thal genotype	β-thal genotype	Gender	Age	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00000001	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	3.7/N	CD41-42/CD17	M	15	alpha-thal, beta-thal	-	BCL11A, BRCA1, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	59	1	Qi Ming
00000004	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/CD41-42	-	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	57	1	Qi Ming
00000005	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD27-28/IVS-II-654	-	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	1	Qi Ming
00000006	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD17/-28C	M	10	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	1	Qi Ming
00000008	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/CD17	-	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	57	1	Qi Ming
00000010	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD17/CD17	M	13	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	1	Qi Ming
00000011	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	-28C/N	-	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	1	Qi Ming
00000012	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	-90/N	-	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	1	Qi Ming
00000013	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD17/CD17	F	17	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	1	Qi Ming
00000014	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD17/CD17	M	6	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	1	Qi Ming
00000015	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/CD17	F	8	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	57	1	Qi Ming
00000016	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD43/CD17	M	5	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	59	1	Qi Ming
00000017	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	3.7/N	IVS-I-1/IVS-I-1	M	41	alpha-thal, beta-thal	-	BCL11A, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	19	1	Qi Ming
00000018	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/CD26	F	27	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	69	1	Qi Ming
00000019	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD27-28/-28C	M	18	beta-thal	-	BCL11A, HBA2, HBD, HBE1, HBG1, HBG2	BCL11A, HBD, HBE1, HBG1, HBG2	24	1	Qi Ming
00000020	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD27-28/N	-	-	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	71	1	Qi Ming
00000021	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/-29	M	13	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	1	Qi Ming
00000022	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/-90	F	13	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	1	Qi Ming
00000023	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	IVS-II-654/IVS-I-1	M	13	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	65	1	Qi Ming
00000024	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/CD41-42	M	8	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	1	Qi Ming
00000025	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD71-72/CD41-42	F	12	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	1	Qi Ming
00000026	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD71-72/CD41-42	-	-	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	52	1	Qi Ming
00000027	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/IVS-I-1	M	8	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	66	1	Qi Ming
00000028	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/IVS-II-5	M	21	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	1	Qi Ming
00000029	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/N	-	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	1	Qi Ming
00000030	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/N	-	-	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	1	Qi Ming
00000031	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	3.7/N	Chinese/CD41-42	M	8	alpha-thal, beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	58	1	Qi Ming
00000032	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD71-72/-28C	M	7	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	58	1	Qi Ming
00000033	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD71-72/IVS-I-1	M	15	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	64	1	Qi Ming
00000034	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	3.7/N	CD71-72/N	M	5	alpha-thal, beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	51	1	Qi Ming
00000035	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	IVS-I-1/-28C	M	7	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	51	1	Qi Ming
00000036	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	IVS-II-654/-28C	M	8	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	58	1	Qi Ming
00000037	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	IVS-II-654/N	-	-	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	1	Qi Ming
00000038	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	IVS-II-654/N	-	-	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	56	1	Qi Ming
00000053	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	Chinese/N	-	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	54	1	Qi Ming
00000057	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	SEA/3.7	CD17/N	-	-	alpha-thal, beta-thal, HbH	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	1	Qi Ming
00000060	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD17/IVS-II-654	-	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	1	Qi Ming
00000062	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	3.7/N	CD41-42/CD41-42	-	-	alpha-thal, beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	58	1	Qi Ming
00000064	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD27-28/IVS-II-654	F	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	64	1	Qi Ming
00000065	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD17/IVS-II-654	-	-	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	57	1	Qi Ming
00000066	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	IVS-II-654/-28C	-	-	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	58	1	Qi Ming
00000067	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD17/CD17	M	8	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	56	1	Qi Ming
00000068	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD17/IVS-II-654	-	-	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	57	1	Qi Ming
00000071	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD17/IVS-II-654	-	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	57	1	Qi Ming
00000072	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/-28C	-	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	57	1	Qi Ming
00000073	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/CD17	-	-	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	65	1	Qi Ming
00000074	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/CD26	M	6	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	1	Qi Ming
00000075	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/IVS-II-654	-	-	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	58	1	Qi Ming
00000076	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	Chinese/CD41-42	-	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	1	Qi Ming
00000077	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	SEA/N	CD41-42/-29	M	13	alpha-thal, beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	1	Qi Ming
00000078	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/CD41-42	-	-	beta-thal	-	HBA2, HBB, HBD, HBE1, HBG1, HBG2, MYB	HBB, HBD, HBE1, HBG1, HBG2	44	1	Qi Ming
00000080	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	IVS-II-654/IVS-II-654	F	7	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	71	1	Qi Ming
00000081	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	SEA/N	CD41-42/CD17	M	7	alpha-thal, beta-thal	-	HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	HBB, HBD, HBE1, HBG1, HBG2	52	1	Qi Ming
00000082	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/-28C	-	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	1	Qi Ming
00000083	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD17/IVS-II-654	-	-	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	1	Qi Ming
00000084	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD95/CD41-42	M	4	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	56	1	Qi Ming
00000085	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/CD26	-	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	1	Qi Ming
00000091	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	4.2/N	CD41-42/CD17	-	-	alpha-thal, beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	51	1	Qi Ming
00000092	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/IVS-II-654	-	-	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	51	1	Qi Ming
00000094	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	SEA/N	CD41-42/IVS-II-654/c.61G>A (p.V21M Hb Olympia)	-	-	alpha-thal, beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	1	Qi Ming
00000095	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	CD122(WS)/N	IVS-II-654/N	-	-	alpha-thal, beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	51	1	Qi Ming
00000096	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/CD41-42	M	10	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	1	Qi Ming
00000097	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD17/IVS-II-654	-	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	1	Qi Ming
00000101	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	SEA/CD142(CS)	CD113/N	F	24	alpha-thal, beta-thal, HbH	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	54	1	Qi Ming
00000103	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/IVS-II-654	-	-	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	58	1	Qi Ming
00000104	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/CD41-42	F	9	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	1	Qi Ming
00000106	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/CD41-42	M	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	1	Qi Ming
00000109	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	(SEA)-HPFH/CD41-42	F	23	beta-thal, HPFH	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	70	1	Qi Ming
00000110	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD71-72/CD17	F	10	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	57	1	Qi Ming
00000112	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	SEA/N	IVS-II-654/-28C	-	-	alpha-thal, beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	51	1	Qi Ming
00000114	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	IVS-I-1/-29	M	2	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	1	Qi Ming
00000115	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD43/CD17	M	7	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	57	1	Qi Ming
00000116	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/IVS-II-654	-	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	1	Qi Ming
00000117	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	beta Taiwanese/IVS-II-654	-	-	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	1	Qi Ming
00000118	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD17/IVS-II-5	M	9	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	51	1	Qi Ming
00000120	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/CD17	-	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, KLF1	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, KLF1	50	1	Qi Ming
00000121	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/CD41-42	M	6	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	1	Qi Ming
00000123	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	3.7/N	Chinese/CD17	M	20	alpha-thal, beta-thal	-	BCL11A, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBD, HBE1, HBG1, HBG2	51	1	Qi Ming
00000125	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD26/CD17	M	11	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	62	1	Qi Ming
00000131	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	CD122(WS)/N	CD41-42/CD17	M	7	alpha-thal, beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	1	Qi Ming
00000135	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD26/IVS-II-654	M	8	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	1	Qi Ming
00000136	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD17/-28C	M	12	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBD, HBE1, HBG1, HBG2	56	1	Qi Ming
00000138	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD17/CD14-15	M	8	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	1	Qi Ming
00000144	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD17/IVS-II-5	F	29	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	1	Qi Ming
00000145	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/IVS-II-654	M	4	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	1	Qi Ming
00000148	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD17/CD17	-	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	43	1	Qi Ming
00000150	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/CD17	M	6	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	1	Qi Ming
00000153	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/CD41-42	M	11	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	57	1	Qi Ming
00000155	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD27-28/CD27-28	-	-	beta-thal	-	BCL11A, HBA2, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBD, HBE1, HBG1, HBG2	31	1	Qi Ming
00000156	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/CD41-42	-	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	56	1	Qi Ming
00000157	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	SEA/N	CD17/CD17	F	9	alpha-thal, beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	51	1	Qi Ming
00000159	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/CD41-42	-	-	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	1	Qi Ming
00000166	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/CD41-42	M	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	1	Qi Ming
00000168	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	SEA/3.7	5i-UTR Cap+40-43/N	F	27	alpha-thal, beta-thal, HbH	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	1	Qi Ming
00000171	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/IVS-II-654	M	6	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	1	Qi Ming
00000174	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD26/IVS-II-654	-	-	beta-thal	-	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	56	1	Qi Ming
00000200	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD27-28/-28C	M	9	beta-thal	-	BCL11A, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBD, HBE1, HBG1, HBG2	32	1	Qi Ming
00000201	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	(SEA)-HPFH/CD41-42	M	27	beta-thal, HPFH	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	70	1	Qi Ming
00000212	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	Chinese/-28C	M	14	beta-thal	-	BCL11A, HBA2, HBE1, HBG1, HBG2	BCL11A, HBE1, HBG1, HBG2	27	1	Qi Ming
00000213	Shang X,et al.(2017)	Medical Genetics Department of Southern Medical University	N/N	CD41-42/CD26	M	3	beta-thal	-	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	1	Qi Ming

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