Alpha thalassaemia

D3_ALPHATHALASSAEMIA

No definition available.

Endpoint definition

↥

Endpoint definition steps	FinnGen
Phenotype data	520210
1. Apply sex-specific rule None	520210
2. Check conditions None	520210
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — D56.0 Cause of death: ICD-10 — D56.0 2 out of 7 registries used, show all original rules.	39
4. Check minimum number of events None	39
5. Include endpoints None	39
6. Filter based on genotype QC (FinnGen only)	39

Control definitions (FinnGen only)

Control exclude: D3_HAEMOLYTICANAEMIA

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: D56
Name in latin: Thalassaemia alpha

NAME	D3_ALPHATHALASSAEMIA
CONTROL_EXCLUDE	D3_HAEMOLYTICANAEMIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	D560
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	D560
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

↥

List of similar endpoints to Alpha thalassaemia based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

↥

FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	496	279	170
Only index persons	365	234	131
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.00
Only index persons	0.01	0.01	0.01
Median age at first event (years)
Whole population	27.04	31.92	17.28
Only index persons	30.73	33.88	25.11

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	39	26	13
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	35.01	29.92	45.20

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

CodeWAS (R11)

↥

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log₁₀(p-value) ≥ 6.

No data available

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma

4.14

4.55

2.6

2.0

4.5

2.7

mg/l

1.39

(42870588) Differential panel, method unspecified - Blood

111

3.25

3.20

5.8

4.6

—

(46236098) ABO and Rh group [Type] in Blood by Confirmatory method

3.30

3.14

1.6

1.8

—

(3033658) Prothrombin time (PT) actual/Normal

3.22

3.08

5.6

3.6

89.4

92.1

0.20

(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight

4.55

2.89

1.4

1.5

—

(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma

4.55

2.89

1.4

1.5

—

(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age

4.55

2.89

1.4

1.5

—

(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma

4.55

2.89

1.4

1.5

—

(3013327) Hepatitis A virus IgM Ab [Presence] in Serum

9.31

2.83

1.0

—

(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid

6.21

2.65

1.0

1.1

—

(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection

6.21

2.65

2.0

1.1

—

(3023511) Choriogonadotropin [Units/volume] in Urine

6.21

2.65

1.3

1.0

—

(3044640) Blood type and Crossmatch panel - Blood

102

2.68

2.29

1.6

2.0

—

(3017143) Hepatitis C virus Ab [Presence] in Serum

2.95

2.21

1.6

1.4

—

(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma

3.60

2.15

1.5

1.6

—

(3005033) Fetal Nuchal fold Thickness US

3.83

2.07

1.4

1.5

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

3.83

2.07

1.4

1.5

—

(3000494) Fungus identified in Specimen by Culture

3.45

2.07

2.5

1.2

—

(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count

2.83

2.05

3.3

2.7

1.3

0.7

e6/l

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

4.23

2.02

2.3

1.2

—

(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method

5.03

2.00

2.8

1.5

82.4

100.4

—

(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay

5.03

2.00

2.0

1.5

2.6

3.3

g/l

—

(40758558) Short blood count panel - Blood

2.47

1.91

10.5

5.1

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

3.47

1.90

1.6

—

(40761535) Cells panel - Urine sediment

4.60

1.88

5.4

4.3

—

(3000492) Spirometry study

3.18

1.74

4.0

1.5

—

(40768797) Stomach Pathology biopsy report

2.88

1.71

1.4

1.1

—

(3037467) Urinalysis macro (dipstick) panel - Urine

227

2.39

1.59

5.7

4.4

—

(43054903) Holo-transcobalamin II [Moles/volume] in Serum

126

2.21

1.56

2.2

1.8

99.0

99.5

pmol/l

—

(3007164) IgA [Mass/volume] in Serum or Plasma

2.37

1.56

2.0

1.5

2.8

2.3

g/l

—

(36304419) Bacteria [Presence] in Urine

2.25

1.55

4.2

2.9

—

(3030467) Casts [#/volume] in Urine by Automated count

2.22

1.51

4.2

2.9

0.0

0.2

e6/l

1.73

(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count

112

2.13

1.42

4.3

2.9

—

(3013650) Neutrophils [#/volume] in Blood by Automated count

199

2.16

1.35

13.7

8.9

3.5

4.3

e9/l

1.52

168

(3000991) Gas panel - Venous blood

3.03

1.32

4.2

8.1

—

(3024561) Albumin [Mass/volume] in Serum or Plasma

124

2.04

1.30

7.8

4.3

39.1

36.9

g/l

0.86

119

(3021879) Hepatitis B virus core Ab [Presence] in Serum

2.53

1.17

1.4

—

(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma

2.13

1.10

1.4

1.5

—

(3012544) pH of Venous blood

2.44

0.98

5.2

3.1

—

(3002032) Base excess in Venous blood by calculation

2.44

0.98

5.2

3.0

3.2

1.7

mmol/l

—

(3019284) Hepatitis B virus surface Ag [Presence] in Serum

1.87

0.95

2.1

1.7

—

(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture

1.84

0.91

1.6

1.9

—

(3018095) Leukocytes [#/volume] in Urine

120

1.74

0.84

5.0

3.8

38.7

36.6

e6/l

0.02

(3011397) Hemoglobin [Presence] in Urine by Test strip

1.84

0.84

4.6

3.2

—

(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma

0.00

0.82

0.0

1.5

—

(40768804) Tissue Pathology biopsy report

113

1.71

0.78

2.2

1.8

—

(3002582) Erythrocytes [#/volume] in Urine

105

1.70

0.75

4.3

3.1

18.8

40.1

e6/l

—

(3001079) Blood group antibody screen [Presence] in Serum or Plasma

171

1.66

0.74

3.8

—

(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma

2.05

0.73

14.0

6.2

—

(46235355) HIV 1 and 2 tests - Meaningful Use set

108

1.63

0.66

2.5

2.2

—

(3022217) INR in Platelet poor plasma by Coagulation assay

1.84

0.61

40.7

15.6

—

1.3

—

(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection

1.68

0.57

4.3

1.6

—

(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection

1.68

0.57

4.0

1.6

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.68

0.57

2.2

1.3

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.62

0.55

1.8

—

(3026493) Urate [Moles/volume] in Serum or Plasma

1.62

0.55

4.5

2.3

331.6

337.1

umol/l

0.08

(3022145) Colonoscopy Study observation

1.59

0.54

1.0

1.4

—

(3015736) pH of Urine

122

1.53

0.54

5.4

3.3

—

(3044889) 12 lead EKG panel

190

1.51

0.53

4.6

3.0

—

(3000850) Epithelial cells [#/volume] in Urine

1.60

0.50

3.4

2.7

3.5

5.1

e6/l

—

(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection

1.52

0.49

1.4

1.9

—

(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum

1.55

0.47

1.4

1.5

—

0.9

—

(3002179) Metamyelocytes/100 leukocytes in Blood

1.70

0.45

2.6

5.5

—

0.2

—

(3050129) First trimester maternal screen panel - Serum or Plasma

1.64

0.44

2.0

1.4

—

(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay

0.00

0.42

0.0

1.6

—

(3021440) Promyelocytes/100 leukocytes in Blood

1.54

0.42

3.0

5.6

—

0.0

—

(3023368) Bacteria identified in Blood by Culture

1.52

0.42

4.4

—

(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep

1.42

0.42

2.0

1.4

—

(3017181) Myelocytes/100 leukocytes in Blood

1.49

0.41

3.0

5.5

—

0.3

—

(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection

1.49

0.41

1.4

1.8

—

(3030981) Hyaline casts [#/volume] in Urine by Automated count

0.00

0.41

0.0

2.8

—

0.0

—

(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip

120

1.41

0.38

4.7

4.1

—

(1761868) Lipid panel - Serum or Plasma

107

0.68

0.35

2.5

—

(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma

1.45

0.34

1.9

1.6

0.8

1.0

mg/l

—

(3042936) Bacteria identified in Isolate by Culture

1.45

0.34

1.9

2.0

—

(3026008) Bacteria identified in Urine by Culture

103

1.39

0.34

3.8

2.8

—

(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection

1.30

0.28

3.4

2.8

—

(3031040) Bacteria [#/volume] in Urine by Automated count

224

1.32

0.28

6.1

4.6

—

16.4

—

(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence

0.00

0.22

0.0

1.1

—

(36305247) Microscopic observation [Identifier] in Isolate by Gram stain

0.00

0.22

0.0

1.6

—

(4034850)

0.00

0.20

0.0

6.7

—

(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.20

0.0

2.1

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.20

0.0

1.3

—

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

0.00

0.20

0.0

2.2

—

(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection

1.20

0.18

2.8

2.5

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.20

0.12

3.4

3.8

—

(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection

1.16

0.09

4.5

1.8

—

(3013512) EKG study

0.86

0.08

5.9

3.3

—

(3009508) Creatinine [Moles/volume] in Urine

1.17

0.07

3.5

3.3

7.8

7.4

mmol/l

—

(3003694) ABO and Rh group [Type] in Blood

131

1.11

0.04

1.7

1.6

—

(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection

257

1.04

0.00

4.3

3.6

—

(3007821) Glucose [Moles/volume] in Serum or Plasma --baseline

0.00

0.0

1.3

—

6.1

—

(3037756) Immunofixation for Serum or Plasma

0.00

0.0

1.2

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.4

—

(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum

0.00

0.0

1.1

—

(3049717) Cytology report of Urine Cyto stain

0.00

0.0

3.1

—

(4268621)

0.00

0.0

1.8

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.88

0.00

1.4

1.5

—

(3025149) Bordetella pertussis IgA Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(40759040) C peptide [Moles/volume] in Serum or Plasma --post meal

0.00

0.0

1.2

—

1.7

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

0.00

0.0

2.6

—

(36032269) Testosterone Free [Moles/volume] in Serum or Plasma by calculation

0.00

0.0

1.8

—

198.6

—

(3045788) Cell count panel - Pleural fluid

0.00

0.0

1.2

—

(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(40765089) Chromosome analysis panel - Blood by G-banded

0.00

0.0

1.0

—

(40768806) Pleura Pathology biopsy report

0.00

0.0

1.6

—

(3023150) Myeloperoxidase Ab [Units/volume] in Serum

0.00

0.0

1.3

—

(3026389) Candida sp identified in Specimen by Organism specific culture

0.00

0.0

1.2

—

(40764126) Parainfluenza virus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.8

—

(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay

0.00

0.0

1.9

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.0

1.0

—

(3030408) 3-Methoxytyramine [Moles/volume] in Serum or Plasma

0.00

0.0

1.0

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.0

—

(4027681)

0.00

0.0

1.2

—

(3023103) Potassium [Moles/volume] in Serum or Plasma

324

1.12

0.00

21.2

13.7

3.9

4.0

mmol/l

0.27

312

(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma

0.00

0.0

3.4

—

(3032699) Streptococcus pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.6

—

(3043109) Cytology report of Tissue fine needle aspirate Cyto stain

0.00

0.0

1.0

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.1

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.0

3.4

—

91.4

—

(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma

0.98

0.00

4.0

4.4

1.3

1.6

ug/l

—

(42529215) Follitropin [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

2.3

—

20.0

—

(3026782) Osmolality of Urine

1.02

0.00

7.1

2.7

697.0

524.1

mosm/kgh2o

—

(3019550) Sodium [Moles/volume] in Serum or Plasma

323

1.14

0.00

21.5

13.7

139.4

139.5

mmol/l

0.22

312

(40764127) Haemophilus influenzae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.6

—

(3024474) Albumin [Mass/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

211.2

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

0.0

1.0

—

(3013201) Beta-2-Microglobulin [Mass/volume] in Serum or Plasma

0.00

0.0

1.6

—

2.5

—

(3028369) Herpes simplex virus 1+2 DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.4

—

(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method

0.00

0.0

1.4

—

(3027315) Oxygen [Partial pressure] in Blood

0.00

0.0

6.1

—

8.3

—

(3013290) Carbon dioxide [Partial pressure] in Blood

0.00

0.0

6.1

—

4.7

—

(3037875) Bordetella parapertussis DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.6

—

(4094501)

0.00

0.0

1.0

—

(40760892) CBC W Ordered Manual Differential panel - Blood

0.95

0.00

4.8

6.9

—

(3027953) Aldolase [Enzymatic activity/volume] in Serum or Plasma

0.00

0.0

1.2

—

5.1

—

(3028271) Lactate [Moles/volume] in Capillary blood

0.00

0.0

3.6

—

1.6

—

Mortality – FinRegistry

↥

Association

Association between endpoint D3_ALPHATHALASSAEMIA and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_ALPHATHALASSAEMIA.

N-year risk	Females	Males
1	No data	No data
5	No data	No data
10	No data	No data
15	No data	No data
20	No data	No data

Relationships between endpoints

↥

Index endpoint: D3_ALPHATHALASSAEMIA – Alpha thalassaemia

GWS hits: -

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

rg [CI]

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

Alpha thalassaemia

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

3. Check pre-conditions, main-only, mode, registry filters

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

CodeWAS (R11)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints