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	519972
1. Apply sex-specific rule None	519972
2. Check conditions None	519972
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.	28
4. Check minimum number of events None	28
5. Include endpoints None	28
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

(3032868) Hemoglobin electrophoresis panel in Blood

+∞

9.95

2.0

0.0

—

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

18.99

9.81

12.2

4.4

217.94

227.00

u/l

0.15

(3018738) Hemoglobin F/Hemoglobin.total in Blood

+∞

7.61

12.0

0.0

5.60

—

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

16.36

6.40

11.2

8.1

97.90

93.22

—

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

14.70

6.13

11.2

8.0

133.90

174.90

—

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

13.98

5.49

32.7

11.1

25.30

24.13

mmol/l

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

8.68

5.37

10.5

4.3

28.35

30.21

0.52

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

5.85

5.07

2.8

1.7

3.57

2.90

mg/l

0.39

(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

14.92

4.54

1.3

2.8

—

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

8.81

3.99

2.6

1.8

—

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

14.70

3.95

47.8

18.6

24.50

25.00

mmol/l

—

(3012544) pH of Venous blood

9.88

3.80

43.3

14.0

—

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

12.23

3.68

1.3

1.0

—

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

7.51

3.64

2.6

1.9

—

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

4.24

3.42

22.3

5.9

1.20

1.23

mmol/l

0.96

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

7.35

3.24

1.1

1.4

—

(40760892) CBC W Ordered Manual Differential panel - Blood

4.09

3.13

31.2

7.4

—

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

11.75

3.10

6.4

3.0

—

(3044640) Blood type and Crossmatch panel - Blood

3.92

3.08

19.5

2.3

—

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

3.92

3.08

23.1

7.2

1.21

1.23

mmol/l

0.70

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

3.92

3.08

1.7

1.6

84.44

92.86

pmol/l

—

(3000991) Gas panel - Venous blood

8.10

3.03

42.5

9.9

—

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

3.83

2.95

2.6

1.4

2.40

2.17

g/l

—

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

5.45

2.67

7.4

7.2

107.29

102.69

mmol/l

—

(3052851) Hemolysis interference index of Serum or Plasma

8.36

2.66

1.4

—

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

8.36

2.66

1.4

1.0

—

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

3.54

2.51

25.1

2.4

—

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

7.30

2.48

12.6

1.0

67.08

69.04

g/l

—

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

3.16

2.24

1.9

1.8

—

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

5.81

2.16

1.6

1.3

—

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

3.72

2.14

2.8

2.5

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

4.81

1.91

2.0

1.0

—

(3037467) Urinalysis macro (dipstick) panel - Urine

152

3.08

1.80

8.0

4.4

—

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

3.38

1.79

2.0

1.5

—

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

3.72

1.77

1.7

1.4

—

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

3.34

1.60

2.8

1.4

365.83

396.94

nmol/l

—

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

2.67

1.52

2.4

1.5

—

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

3.56

1.50

2.4

4.1

5.06

5.22

kpa

—

(3023368) Bacteria identified in Blood by Culture

2.60

1.48

10.8

4.5

—

(3026008) Bacteria identified in Urine by Culture

2.59

1.47

4.5

2.6

—

(36304419) Bacteria [Presence] in Urine

2.53

1.41

6.6

2.5

—

(40758558) Short blood count panel - Blood

2.48

1.35

54.5

5.3

—

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

2.77

1.32

1.2

1.4

—

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

2.77

1.32

1.2

1.4

—

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

2.77

1.32

1.2

1.4

—

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

2.77

1.32

1.2

1.4

—

(3044889) 12 lead EKG panel

120

2.40

1.32

2.9

2.7

—

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

2.34

1.25

6.2

2.5

—

(40768804) Tissue Pathology biopsy report

2.28

1.22

2.2

1.7

—

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

2.40

1.12

3.0

2.4

—

(36660697) Celiac disease serology panel - Serum

2.54

1.08

1.6

1.2

—

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

108

2.12

1.06

20.6

2.5

—

(3002256) Pathology report gross observation

2.35

0.96

1.0

1.1

—

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

111

2.03

0.95

14.1

4.2

6.11

6.15

mmol/l

0.03

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

1.98

0.87

2.6

1.9

—

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

1.92

0.83

2.6

2.2

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

2.42

0.81

1.4

1.6

—

(3042936) Bacteria identified in Isolate by Culture

2.42

0.81

2.0

1.6

—

(40768797) Stomach Pathology biopsy report

2.12

0.75

1.2

—

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

2.03

0.72

1.6

—

(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma

1.95

0.70

2.0

2.3

—

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

164

1.77

0.64

12.2

2.8

58.75

39.51

u/l

0.45

158

(3013512) EKG study

1.90

0.63

7.5

3.4

—

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

1.69

0.54

1.4

1.6

—

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

0.00

0.42

0.0

1.6

—

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

1.58

0.42

2.0

2.3

—

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

1.54

0.40

1.4

1.8

—

(1761868) Lipid panel - Serum or Plasma

0.66

0.39

2.9

2.2

—

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

1.46

0.37

1.5

1.3

—

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

1.46

0.32

2.2

2.4

—

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

209

0.72

0.30

4.2

3.6

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.32

0.29

1.4

1.8

—

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

1.28

0.22

1.7

1.8

—

(40768443) Skin Pathology biopsy report

0.00

0.22

0.0

1.3

—

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

0.00

0.22

0.0

1.4

—

(1002224) Polysomnography panel

0.00

0.22

0.0

1.3

—

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

0.00

0.22

0.0

1.4

—

(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

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.08

0.09

6.7

2.5

—

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

0.85

0.08

6.7

3.1

—

(3025130) Human papilloma virus identified in Specimen

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

1.3

—

(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.6

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.2

—

(3023939) Sjogrens syndrome-A extractable nuclear Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.2

—

(3025245) SCL-70 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

-0.00

0.0

1.2

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

2.4

—

3.72

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

2.4

—

1.06

—

(3011985) Renin [Units/volume] in Plasma

0.00

-0.00

0.0

1.2

—

10.98

—

(3027450) Sjogrens syndrome-B extractable nuclear Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.2

—

(3016921) Smith extractable nuclear Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.6

—

6.72

—

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

0.00

-0.00

0.0

1.0

—

177.20

—

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

0.00

-0.00

0.0

1.3

—

(3017044) Thyrotropin receptor Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.2

—

(3019060) Gas panel - Arterial blood

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

1.6

—

(3020891) Body temperature

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.6

—

(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination

0.00

-0.00

0.0

2.1

—

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