Aplastic anaemias

Metadata

Name	Aplastic anaemias (aplastic)
Category	Haematological or immunological
Sex
Adult	Yes
UUID	caedc454-e8fe-4089-aabb-613a448d66f3
Definition	Aplastic anaemia is a serious condition affecting the blood, where the bone marrow and stem cells do not produce enough blood cells. It is also called bone marrow failure.

Ontologies

Disease Ontology (DOID)	DOID_12449
GWAS Catalogue	EFO_0006927
MeSH	D000741
SNOMED-CT	306058006
FinnGen	D3_APLASTICANDOTHANAEMIA

Key Summary Statistics

Cases from any source

Total	1390
Female (%)	580 (42%)
Male (%)	810 (58%)

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	3.77 (2.47,5.08)
Male	4.62 (3.04,6.2)

Incidence stratified by sex

Female	0.72 (0.5,0.94)
Male	1.94 (1.54,2.33)

Incidence stratified by age

Ages 40-44	0.6 (0.12,1.09)
Ages 45-49	0.22 (-0.03,0.47)
Ages 50-54	0.89 (0.42,1.35)
Ages 55-59	1.09 (0.62,1.56)
Ages 60-64	1.84 (1.32,2.36)
Ages 65-69	2.06 (1.43,2.69)

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 (5,10)	13 (11,17)	18 (15,21)
CALIBER	6 (6,7)	12 (11,13)	21 (20,23)

Stratified by age and Townsend deprivation status

Deprivation status	Ages 40-49	Ages 50-59	Ages 60-69
Least deprived	5(1,13)	10(5,17)	20(14,27)
Low	11(5,21)	13(8,21)	16(10,22)
Medium	7(2,16)	12(7,19)	18(12,25)
High	5(2,12)	11(6,19)	17(11,24)
Most deprived	7(3,14)	21(13,30)	20(14,29)

Stratified by age and country

Country	Ages 40-49	Ages 50-59	Ages 60-69
England	8(5,11)	14(11,18)	19(16,22)
Scotland	6(1,19)	11(5,21)	13(7,22)
Wales	3(0,17)	11(4,25)	15(7,27)

Risk factors analysis

‘Healthy’ BMI, smoking status ‘never’, or no hypertension (absence of hypertension records) were considered as reference values.

Hazard Ratio (HR) values with P < 0.0002 were considered to show significant association with disease onset after correction for multiple-testing using the Bonferroni method

N=153321, Events=259

Factor	Level	Hazard Ratio	P value
BMI	overweight	1.47 (1.07, 2.01)	0.0165
BMI	obese	2.46 (1.81, 3.35)	1.19e-08
BMI	underweight	0 (0, Inf)	0.998
smoking	previous	1.06 (0.81, 1.39)	0.676
smoking	current	0.75 (0.46, 1.22)	0.25
hypertension	yes	0.83 (0.58, 1.19)	0.31

Definition

UK Biobank field id	Description	Code	Value
20002	Non-cancer illness code, self-reported	1332	aplastic anaemia
20002	Non-cancer illness code, self-reported	1447	pancytopenia
41202	Diagnoses - main ICD10	D60	Acquired pure red cell aplasia [erythroblastopenia]
41202	Diagnoses - main ICD10	D61	Other aplastic anaemias
41204	Diagnoses - secondary ICD10	D60	Acquired pure red cell aplasia [erythroblastopenia]
41204	Diagnoses - secondary ICD10	D61	Other aplastic anaemias
40001	Underlying (primary) cause of death: ICD10	D60	Acquired pure red cell aplasia [erythroblastopenia]
40001	Underlying (primary) cause of death: ICD10	D61	Other aplastic anaemias
40002	Contributory (secondary) causes of death: ICD10	D60	Acquired pure red cell aplasia [erythroblastopenia]
40002	Contributory (secondary) causes of death: ICD10	D61	Other aplastic anaemias
42040	GP clinical event records	D200000	Congenital hypoplastic anaemia
42040	GP clinical event records	D200011	Constitutional aplastic anaemia without malformation
42040	GP clinical event records	D200100	Fanconi’s familial refractory anaemia
42040	GP clinical event records	D200111	Fanconi’s hypoplastic anaemia
42040	GP clinical event records	D200200	Constitutional aplastic anaemia with malformation
42040	GP clinical event records	D200211	Pancytopenia-dysmelia
42040	GP clinical event records	D200300	Constitutional red cell aplasia and hypoplasia
42040	GP clinical event records	D200311	Blackfan - Diamond syndrome
42040	GP clinical event records	D200312	Congenital pure red cell aplasia
42040	GP clinical event records	D200313	Constitutional red cell hypoplasia
42040	GP clinical event records	D200314	Congenital red cell hypoplasia
42040	GP clinical event records	D200400	Erythrogenesis imperfecta
42040	GP clinical event records	D200.00	Constitutional aplastic anaemia
42040	GP clinical event records	D200.13	Blackfan - Diamond syndrome
42040	GP clinical event records	D200.15	Hypoplastic anaemia - familial
42040	GP clinical event records	D200y00	Other specified constitutional aplastic anaemia
42040	GP clinical event records	D201000	Aplastic anaemia due to chronic disease
42040	GP clinical event records	D201100	Aplastic anaemia due to drugs
42040	GP clinical event records	D201111	Hypoplastic anaemia due to drug or chemical substance
42040	GP clinical event records	D201200	Aplastic anaemia due to infection
42040	GP clinical event records	D201211	Hypoplastic anaemia due to infection
42040	GP clinical event records	D201311	Radiation aplastic anaemia
42040	GP clinical event records	D201400	Aplastic anaemia due to toxic cause
42040	GP clinical event records	D201412	Hypoplastic anaemia due to toxic cause
42040	GP clinical event records	D201500	Pancytopenia - acquired
42040	GP clinical event records	D201600	Pancytopenia NOS
42040	GP clinical event records	D201611	Pancytopenia with malformation
42040	GP clinical event records	D201612	Pancytopenia with pancreatitis
42040	GP clinical event records	D201700	Transient hypoplastic anaemia
42040	GP clinical event records	D201800	[X]Pure red cell aplasia
42040	GP clinical event records	D201.00	Acquired aplastic anaemia
42040	GP clinical event records	D201.11	Normocytic anaemia due to aplasia
42040	GP clinical event records	D201z00	Acquired aplastic anaemia NOS
42040	GP clinical event records	D201z12	Red cell hypoplasia
42040	GP clinical event records	D201z13	Secondary red cell hypoplasia NEC
42040	GP clinical event records	D201z14	Secondary red cell aplasia NEC
42040	GP clinical event records	D202.00	Chronic acquired pure red cell aplasia
42040	GP clinical event records	D203000	Transient erythroblastopenia of childhood
42040	GP clinical event records	D203.00	Transient acquired pure red cell aplasia
42040	GP clinical event records	D204.00	Idiopathic aplastic anaemia
42040	GP clinical event records	D20..00	Aplastic anaemia
42040	GP clinical event records	D20X.00	Acquired pure red cell aplasia, unspecified
42040	GP clinical event records	D20z.00	Aplastic anaemia NOS
42040	GP clinical event records	XE13u	Aplastic anaemia due to drugs
42040	GP clinical event records	XE13u	Aplastic anaemia due to drugs
42040	GP clinical event records	XE13q	Constitutional aplastic anaemia
42040	GP clinical event records	XE13v	Pancytopenia NOS
42040	GP clinical event records	XE13s	Constitutional red cell aplasia and hypoplasia
42040	GP clinical event records	XE13r	Constitutional aplastic anaemia with malformation
42040	GP clinical event records	XE13w	Acquired aplastic anaemia NOS
42040	GP clinical event records	XE13t	Acquired aplastic anaemia
42040	GP clinical event records	X20CX	Transient erythroblastopenia of childhood