Vitamin B12 deficiency anaemia

Metadata

Name	Vitamin B12 deficiency anaemia (b12_def)
Category	Haematological or immunological
Sex
Adult	Yes
UUID	1c6a2eeb-41aa-4718-aae5-2d9961f6a167
Definition	A disease characterized by low serum levels of vitamin B12, either inherited or acquired.

Ontologies

Disease Ontology (DOID)	DOID_13381
GWAS Catalogue	EFO_0005576
MeSH	D000752
SNOMED-CT	49472006
FinnGen	D3_ANAEMIA_B12_DEF

Key Summary Statistics

Cases from any source

Total	5674
Female (%)	3441 (61%)
Male (%)	2233 (39%)

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	100.67 (93.95,107.38)
Male	68.18 (62.14,74.21)

Incidence stratified by sex

Female	9.93 (9.11,10.76)
Male	10.9 (9.96,11.84)

Incidence stratified by age

Ages 40-44	8.1 (6.33,9.88)
Ages 45-49	7.78 (6.29,9.28)
Ages 50-54	8.25 (6.82,9.67)
Ages 55-59	9.78 (8.38,11.19)
Ages 60-64	11.04 (9.75,12.32)
Ages 65-69	14.69 (12.99,16.39)

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	104 (95,115)	128 (119,137)	169 (160,177)
CALIBER	32 (30,33)	45 (43,47)	71 (68,73)

Stratified by age and Townsend deprivation status

Deprivation status	Ages 40-49	Ages 50-59	Ages 60-69
Least deprived	69(52,91)	85(70,102)	136(120,154)
Low	76(57,98)	93(77,111)	145(129,163)
Medium	80(61,102)	109(92,128)	144(127,162)
High	108(88,131)	138(119,159)	167(149,188)
Most deprived	163(140,190)	209(185,235)	269(244,296)

Stratified by age and country

Country	Ages 40-49	Ages 50-59	Ages 60-69
England	103(93,114)	124(115,134)	164(155,174)
Scotland	100(74,131)	127(105,152)	178(154,206)
Wales	130(92,177)	163(131,202)	197(165,233)

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	1331	pernicious anaemia
41202	Diagnoses - main ICD10	D51	Vitamin B12 deficiency anaemia
41204	Diagnoses - secondary ICD10	D51	Vitamin B12 deficiency anaemia
40001	Underlying (primary) cause of death: ICD10	D51	Vitamin B12 deficiency anaemia
40002	Contributory (secondary) causes of death: ICD10	D51	Vitamin B12 deficiency anaemia
42040	GP clinical event records	1452	H/O: Anaemia vit.B12 deficient
42040	GP clinical event records	66E1.00	B12 defic. initial assessment
42040	GP clinical event records	66E2.00	B12 defic.follow-up assessment
42040	GP clinical event records	66E3.00	B12 injections started
42040	GP clinical event records	66E4.00	B12 injections - at home
42040	GP clinical event records	66E5.00	B12 injections - at surgery
42040	GP clinical event records	66E6.00	Reticulcytosis after B12
42040	GP clinical event records	66E..00	B12 deficiency monitoring
42040	GP clinical event records	66E7.00	B12 def.-dubious diag.criteria
42040	GP clinical event records	66E8.00	B12 injections stopped
42040	GP clinical event records	66EZ.00	B12 defic. monitoring NOS
42040	GP clinical event records	C262100	Vitamin B12 deficiency
42040	GP clinical event records	D010.00	Pernicious anaemia
42040	GP clinical event records	D010.11	Addison’s anaemia
42040	GP clinical event records	D010.12	Biermer’s congenital pernicious anaemia
42040	GP clinical event records	D010.13	Congenital deficiency of intrinsic factor
42040	GP clinical event records	D011000	Vitamin B12 deficiency anaemia due to dietary causes
42040	GP clinical event records	D011011	Imerslund - Grasbeck syndrome
42040	GP clinical event records	D011013	Vegan’s anaemia
42040	GP clinical event records	D011100	Vit B12 defic anaemia due to malabsorption with proteinuria
42040	GP clinical event records	D011200	Transcobalamin II deficiency
42040	GP clinical event records	D011.00	Other vitamin B12 deficiency anaemias
42040	GP clinical event records	D011.11	Vitamin B12 deficiency anaemia
42040	GP clinical event records	D011X00	Vitamin B12 deficiency anaemia, unspecified
42040	GP clinical event records	D011z00	Other vitamin B12 deficiency anaemia NOS
42040	GP clinical event records	D013000	Combined B12 and folate deficiency anaemia
42040	GP clinical event records	Dyu0100	[X]Other dietary vitamin B12 deficiency anaemia
42040	GP clinical event records	Dyu0200	[X]Other vitamin B12 deficiency anaemias
42040	GP clinical event records	Dyu0600	[X]Vitamin B12 deficiency anaemia, unspecified
42040	GP clinical event records	F11x600	Cerebral degeneration due to vitamin B12 deficiency
42040	GP clinical event records	F162.00	Subacute combined degeneration of spinal cord
42040	GP clinical event records	F381500	Myasthenic syndrome due to pernicious anaemia
42040	GP clinical event records	XE2ro	Pernicious anaemia
42040	GP clinical event records	XE13h	Vitamin B12 deficiency anaemia due to dietary causes
42040	GP clinical event records	XE13g	Other vitamin B12 deficiency anaemias
42040	GP clinical event records	X40SU	Transcobalamin II deficiency