Thalassaemia

Metadata

Name	Thalassaemia (thala)
Category	Haematological or immunological
Sex
Adult	Yes
UUID	c3b1d6d9-c6fc-4493-b862-b868c6a06ed9
Definition	An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin.

Ontologies

Disease Ontology (DOID)	DOID_10241
MeSH	D013789
SNOMED-CT	40108008
FinnGen	D3_THALASSAEMIA

Key Summary Statistics

Cases from any source

Total	409
Female (%)	259 (63%)
Male (%)	150 (37%)

Year first recorded

Cases linked in all UK Biobank sources

Cross-source concordance

Vertical bars correspond to number of cases per source/intersection; horizontal bars to left correspond to total number of cases per source.

Incidence & prevalence

Baseline prevalence stratified by sex

Female	6.6 (4.87,8.33)
Male	4.2 (2.7,5.7)

Incidence stratified by sex

Female	0.11 (0.02,0.19)
Male	0.15 (0.04,0.26)

Incidence stratified by age

Ages 40-44	0.1 (-0.1,0.3)
Ages 45-49	0.0 (0.0,0.0)
Ages 50-54	0.25 (0.01,0.5)
Ages 55-59	0.16 (-0.02,0.33)
Ages 60-64	0.12 (-0.02,0.25)
Ages 65-69	0.1 (-0.04,0.24)

Period prevalence

Methods

Comparison with general population

Sex-standardised prevalence from CALIBER study (Kuan et al. 2019)

Population	Ages 40-49	Ages 50-59	Ages 60-69
UK Biobank	7 (4,10)	7 (5,9)	4 (3,5)
CALIBER	7 (6,8)	5 (4,6)	4 (4,5)

Stratified by age and Townsend deprivation status

Deprivation status	Ages 40-49	Ages 50-59	Ages 60-69
Least deprived	8(3,18)	8(4,15)	4(1,8)
Low	2(0,9)	6(3,12)	2(1,5)
Medium	5(1,14)	3(1,8)	3(1,7)
High	7(3,15)	11(6,19)	5(2,9)
Most deprived	9(5,17)	4(2,9)	6(3,10)

Stratified by age and country

Country	Ages 40-49	Ages 50-59	Ages 60-69
England	7(4,10)	6(4,8)	4(2,5)
Scotland	8(2,21)	6(2,14)	1(0,5)
Wales	6(1,22)	16(7,30)	9(3,19)

Definition

UK Biobank field id	Description	Code	Value
20002	Non-cancer illness code, self-reported	1340	thalassaemia
41202	Diagnoses - main ICD10	D56.0	Alpha thalassaemia
41202	Diagnoses - main ICD10	D56.1	Beta thalassaemia
41202	Diagnoses - main ICD10	D56.2	Delta-beta thalassaemia
41202	Diagnoses - main ICD10	D56.8	Other thalassaemias
41202	Diagnoses - main ICD10	D56.9	Thalassaemia, unspecified
41204	Diagnoses - secondary ICD10	D56.0	Alpha thalassaemia
41204	Diagnoses - secondary ICD10	D56.1	Beta thalassaemia
41204	Diagnoses - secondary ICD10	D56.2	Delta-beta thalassaemia
41204	Diagnoses - secondary ICD10	D56.8	Other thalassaemias
41204	Diagnoses - secondary ICD10	D56.9	Thalassaemia, unspecified
40001	Underlying (primary) cause of death: ICD10	D56.0	Alpha thalassaemia
40001	Underlying (primary) cause of death: ICD10	D56.1	Beta thalassaemia
40001	Underlying (primary) cause of death: ICD10	D56.2	Delta-beta thalassaemia
40001	Underlying (primary) cause of death: ICD10	D56.8	Other thalassaemias
40001	Underlying (primary) cause of death: ICD10	D56.9	Thalassaemia, unspecified
40002	Contributory (secondary) causes of death: ICD10	D56.0	Alpha thalassaemia
40002	Contributory (secondary) causes of death: ICD10	D56.1	Beta thalassaemia
40002	Contributory (secondary) causes of death: ICD10	D56.2	Delta-beta thalassaemia
40002	Contributory (secondary) causes of death: ICD10	D56.8	Other thalassaemias
40002	Contributory (secondary) causes of death: ICD10	D56.9	Thalassaemia, unspecified
42040	GP clinical event records	D104000	Thalassaemia major NEC
42040	GP clinical event records	D104011	Thalassaemia major - Cooley’s anaemia
42040	GP clinical event records	D104200	Thalassaemia with haemoglobin S disease
42040	GP clinical event records	D104211	Sickle-cell thalassaemia
42040	GP clinical event records	D104300	Alpha thalassaemia
42040	GP clinical event records	D104311	Homozygous alpha thalassaemia
42040	GP clinical event records	D104600	Beta intermedia thalassaemia
42040	GP clinical event records	D104700	Beta major thalassaemia
42040	GP clinical event records	D104811	Beta thalassaemia
42040	GP clinical event records	D104900	Delta-beta thalassaemia
42040	GP clinical event records	D104A00	Hereditary leptocytosis
42040	GP clinical event records	D104.00	Thalassaemia
42040	GP clinical event records	D104.12	Mediterranean anaemia
42040	GP clinical event records	D104z00	Thalassaemia NOS
42040	GP clinical event records	D104z11	Mediterranean anaemia
42040	GP clinical event records	Dyu1100	[X]Other thalassaemias
42040	GP clinical event records	XE13k	Thalassaemia
42040	GP clinical event records	XE13k	Thalassaemia
42040	GP clinical event records	XE13l	Thalassaemia major NEC
42040	GP clinical event records	XE13n	Thalassaemia NOS
42040	GP clinical event records	X20Cq	Delta-beta thalassaemia