Beta thalassaemia

D3_BETATHALASSAEMIA

No definition available.

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps	FinnGen
Phenotype data	557745
1. Apply sex-specific rule None	557745
2. Check conditions None	557745
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — D56.1 Hospital discharge: ICD-9 — 2824A\|2824B Cause of death: ICD-10 — D56.1 Cause of death: ICD-9 — 2824A\|2824B 2 out of 7 registries used, show all original rules.	29
4. Check minimum number of events None	29
5. Include endpoints None	29
6. Filter based on genotype QC (FinnGen only)	5

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 beta

NAME	D3_BETATHALASSAEMIA
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	D561
HD_ICD_9	2824A\|2824B
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	D561
COD_ICD_9	2824A\|2824B
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 Beta 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	262	176
Only index persons	363	223	140
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	24.61	24.77	22.07
Only index persons	29.08	27.38	31.78

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	5	-	-
Unadjusted period prevalence (%)	0.00	-	-
Median age at first event (years)	64.22	-	-

-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

No data

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

CodeWAS

↥

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

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction

22.87

11.42

13.4

4.1

216.61

230.05

u/l

0.27

(3032868) Hemoglobin electrophoresis panel in Blood

+∞

9.95

2.0

0.0

—

(3018738) Hemoglobin F/Hemoglobin.total in Blood

+∞

7.61

14.4

0.0

5.47

—

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

19.03

7.35

12.2

8.2

95.82

93.22

—

(3016293) Bicarbonate [Moles/volume] in Serum or Plasma

15.10

7.18

31.8

12.1

25.47

23.09

mmol/l

0.89

(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay

17.09

7.05

12.3

8.2

147.36

175.00

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

11.55

7.04

10.7

4.4

28.59

30.21

0.42

(42870588) Differential panel, method unspecified - Blood

7.88

6.12

31.4

8.8

—

(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells

17.92

4.85

5.0

3.2

—

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

8.48

4.64

2.4

1.7

—

(36031861) Influenza virus A and B and SARS-CoV-2 (COVID-19) and Respiratory syncytial virus RNA panel - Respiratory system specimen by NAA with probe detection

11.83

4.63

1.4

2.2

—

(3000991) Gas panel - Venous blood

9.59

4.59

36.3

11.4

—

(3016650) Hepatitis A virus Ab [Presence] in Serum

14.92

4.54

1.3

1.0

—

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

7.54

4.32

2.4

1.8

—

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

12.76

4.27

1.3

1.0

—

(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum

8.26

4.22

1.3

1.5

—

(3044640) Blood type and Crossmatch panel - Blood

5.15

4.15

19.3

2.3

—

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

4.83

4.04

23.7

2.6

—

(3014576) Chloride [Moles/volume] in Serum or Plasma

6.78

4.03

13.9

8.2

107.20

103.81

mmol/l

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

14.70

3.95

10.8

12.0

1.45

1.42

—

(3004119) Hemoglobin [Mass/volume] in Venous blood

14.70

3.95

11.7

12.0

131.67

124.40

g/l

—

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

4.66

3.76

25.2

6.1

1.19

1.22

mmol/l

1.23

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

12.23

3.68

10.8

10.3

0.57

0.58

—

(3006504) Eosinophils/Leukocytes in Blood

108

4.75

3.62

31.3

7.1

2.07

2.55

0.73

103

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

4.43

3.52

2.0

1.8

—

(3019069) Monocytes/Leukocytes in Blood

109

4.68

3.37

31.5

7.1

7.68

8.34

0.57

104

(3022096) Basophils/Leukocytes in Blood

109

4.68

3.37

31.4

7.1

0.67

0.59

0.27

104

(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum

7.35

3.24

1.3

1.4

—

(3002032) Base excess in Venous blood by calculation

7.35

3.24

45.9

11.6

2.26

0.89

mmol/l

—

(3007628) Bicarbonate [Moles/volume] standard in Venous blood

9.14

3.22

50.7

13.3

24.50

24.00

mmol/l

—

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

4.77

3.08

1.9

1.6

—

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

3.93

2.98

2.1

1.9

91.73

94.55

pmol/l

0.11

(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection

9.77

2.86

1.2

—

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

4.28

2.79

2.5

2.4

—

(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay

6.59

2.69

1.5

1.3

—

(46236952) Glomerular filtration rate [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)/1.73 sq M

6.59

2.69

10.3

1.9

—

95.20

—

(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection

8.36

2.66

1.2

1.1

—

(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma

3.43

2.50

27.4

6.9

1.20

1.22

mmol/l

0.73

(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection

6.47

2.31

2.4

1.7

—

(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection

6.47

2.31

3.0

1.6

—

(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma

6.47

2.31

1.4

1.2

—

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

3.18

2.24

2.9

1.4

2.40

2.06

g/l

—

(3048929) Epstein Barr virus Ab [Presence] in Serum

4.30

2.22

1.6

1.5

—

(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma

5.81

2.16

1.4

1.2

—

(3023368) Bacteria identified in Blood by Culture

3.14

2.10

8.6

4.2

—

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

3.21

2.09

2.4

1.6

—

(3020630) Protein [Mass/volume] in Serum or Plasma

5.27

2.03

12.6

1.3

67.08

69.42

g/l

—

(3014218) Bicarbonate [Moles/volume] standard in Arterial blood

5.27

2.03

17.0

8.6

25.00

23.36

mmol/l

—

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

117

2.93

2.02

20.6

2.8

—

estimate

—

(40758558) Short blood count panel - Blood

2.64

1.64

43.2

4.7

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

3.81

1.59

2.2

1.1

—

(3023024) Carbon dioxide [Partial pressure] in Capillary blood

3.56

1.50

2.4

4.2

5.06

5.22

kpa

—

(3026008) Bacteria identified in Urine by Culture

2.53

1.46

4.4

2.6

—

(3036481) Cortisol [Moles/volume] in Serum or Plasma

3.03

1.45

2.8

1.4

365.83

403.67

nmol/l

—

(3013512) EKG study

2.62

1.43

5.4

3.0

—

(3013826) Glucose [Moles/volume] in Serum or Plasma

120

2.40

1.32

17.7

4.8

6.20

6.07

mmol/l

0.12

106

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

2.33

1.29

2.8

2.0

—

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

102

2.33

1.29

2.9

2.4

—

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

2.65

1.26

1.5

—

(36304419) Bacteria [Presence] in Urine

2.28

1.14

7.0

2.7

—

estimate

—

(43054914) Glucose tolerance 2 hours panel - Serum or Plasma

2.40

1.12

3.0

2.4

—

(3002256) Pathology report gross observation

2.40

1.12

1.0

1.1

—

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

2.13

1.05

6.1

2.7

—

(40761511) CBC panel - Blood by Automated count

252

+∞

1.04

22.1

10.7

—

(40768804) Tissue Pathology biopsy report

2.09

1.01

2.2

1.7

—

(40768797) Stomach Pathology biopsy report

2.45

0.98

1.3

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

2.31

0.79

1.8

1.7

—

(36660697) Celiac disease serology panel - Serum

2.12

0.75

1.8

1.2

—

(3042936) Bacteria identified in Isolate by Culture

2.03

0.72

2.0

1.7

—

(3003191) Choriogonadotropin [Presence] in Serum or Plasma

1.95

0.70

2.2

2.6

—

(3015736) pH of Urine

101

1.77

0.67

3.5

3.4

6.43

6.38

—

(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma

175

1.80

0.66

12.2

3.1

75.38

38.82

u/l

0.79

170

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

1.62

0.48

2.2

2.5

—

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

1.56

0.43

1.4

1.9

—

(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma

0.00

0.41

0.0

1.6

—

54.02

—

(1761868) Lipid panel - Serum or Plasma

106

0.66

0.38

3.6

2.5

—

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

1.48

0.35

2.4

2.6

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.46

0.32

1.5

2.1

—

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

1.28

0.22

1.5

1.3

—

(3042975) Streptococcus sp identified in Isolate by Organism specific culture

0.00

0.22

0.0

1.0

—

(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture

0.00

0.22

0.0

1.4

—

(1002224) Polysomnography panel

0.00

0.22

0.0

1.3

—

(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

2.9

—

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

0.00

0.21

0.0

3.3

—

(3015171) Extractable nuclear Ab [Units/volume] in Serum

0.00

0.21

0.0

1.2

—

(40768443) Skin Pathology biopsy report

0.00

0.21

0.0

1.2

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.22

0.20

1.7

1.6

—

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

1.09

0.09

2.2

—

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

212

0.96

0.00

4.0

3.6

—

(3038546) Human coronavirus OC43 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.6

—

(3039162) Centromere protein B Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.2

—

(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

2.6

—

18.64

—

(3040359) Human coronavirus NL63 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.6

—

(3002523) Influenza virus A Ag [Presence] in Specimen

0.00

-0.00

0.0

1.1

—

(3043409) Potassium [Moles/volume] in Arterial blood

0.00

-0.00

0.0

2.4

—

3.72

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

-0.00

0.0

1.2

—

(4024509) Urine culture

0.00

-0.00

0.0

2.3

—

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

1.04

-0.00

1.7

3.9

—

(3016701) Glucose [Moles/volume] in Serum or Plasma --2 hours post dose glucose

0.00

-0.00

0.0

1.6

—

6.72

—

(3019060) Gas panel - Arterial blood

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

1.2

—

(3011985) Renin [Units/volume] in Plasma

0.00

-0.00

0.0

1.2

—

15.70

—

(3034603) RHD gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal

0.00

-0.00

0.0

1.3

—

(3003740) Influenza virus B Ag [Presence] in Specimen

0.00

-0.00

0.0

1.1

—

(3012413) Glucose [Moles/volume] in Serum or Plasma --2 hours post meal

0.00

-0.00

0.0

1.4

—

11.36

—

(3041642) Human coronavirus 229E RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.2

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

-0.00

0.0

1.2

—

(40760892) CBC W Ordered Manual Differential panel - Blood

0.94

-0.00

1.8

3.7

—

(3012494) Peanut IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

0.13

—

(3001788) Aldosterone [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

209.83

—

(3025130) Human papilloma virus identified in Specimen

0.00

-0.00

0.0

2.3

—

(3018405) Lactate [Moles/volume] in Arterial blood

0.00

-0.00

0.0

2.4

—

1.06

—

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

0.00

-0.00

0.0

1.6

—

(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.2

—

(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection

0.00

-0.00

0.0

2.0

—

(3020891) Body temperature

0.00

-0.00

0.0

1.8

—

36.93

—

Mortality – FinRegistry

↥

Association

Association between endpoint D3_BETATHALASSAEMIA and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_BETATHALASSAEMIA.

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_BETATHALASSAEMIA – Beta 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

Beta 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

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints