Alpha thalassemia spectrum

Summary

Alpha thalassemia spectrum (MONDO:0011399) is a disease caused by variants in HBA1 and HBA2, with 5 cohort genes and 9 clinical trials. The dominant Reactome pathway is Heme assimilation (3 cohort genes).

At a glance

• Prevalence: Unknown (Europe) [Orphanet-validated]
• Causal genes: HBA1 (GenCC Definitive), HBA2 (GenCC Strong)
• Cohort genes: 5
• ClinVar variants: 445
• Phenotypes (HPO): 23
• Clinical trials: 9

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Prevalence at birth	1-5 / 10 000	10.3	United States	Validated

Signs & symptoms

Clinical features (HPO)

23 HPO clinical features (Orphanet curated; top 23 by frequency):

HPO ID	Term	Frequency
HP:0001935	Microcytic anemia	Very frequent (80-99%)
HP:0011902	Abnormal hemoglobin	Very frequent (80-99%)
HP:0001433	Hepatosplenomegaly	Frequent (30-79%)
HP:0001635	Congestive heart failure	Frequent (30-79%)
HP:0001698	Pericardial effusion	Frequent (30-79%)
HP:0001923	Reticulocytosis	Frequent (30-79%)
HP:0001978	Extramedullary hematopoiesis	Frequent (30-79%)
HP:0002202	Pleural effusion	Frequent (30-79%)
HP:0007430	Generalized edema	Frequent (30-79%)
HP:0001081	Cholelithiasis	Occasional (5-29%)
HP:0001744	Splenomegaly	Occasional (5-29%)
HP:0001789	Hydrops fetalis	Occasional (5-29%)
HP:0001878	Hemolytic anemia	Occasional (5-29%)
HP:0001903	Anemia	Occasional (5-29%)
HP:0001971	Hypersplenism	Occasional (5-29%)
HP:0002863	Myelodysplasia	Occasional (5-29%)
HP:0004823	Anisopoikilocytosis	Occasional (5-29%)
HP:0005507	Hemoglobin Barts	Occasional (5-29%)
HP:0010620	Malar prominence	Occasional (5-29%)
HP:0010978	Abnormality of immune system physiology	Occasional (5-29%)
HP:0100543	Cognitive impairment	Occasional (5-29%)
HP:0430028	Hyperplasia of the maxilla	Occasional (5-29%)
HP:0000952	Jaundice	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	alpha thalassemia spectrum
Mondo ID	MONDO:0011399
MeSH	D017085
OMIM	604131
Orphanet	846
DOID	DOID:1099
ICD-10-CM	D56.0
ICD-11	531667506
NCIT	C34368
SNOMED CT	68913001
UMLS	C0002312
MedGen	1434
GARD	0000621
MedDRA	10043390
Is cancer (heuristic)	no

Also known as: A-thalassemia · alpha thalassaemia · alpha thalassemia spectrum · alpha-thalassemia · alpha-thalassemia trait · thalassemia, alpha- · thalassemias, alpha-

Data availability: 445 ClinVar variants · 5 GenCC gene-disease records · 26 cell lines.

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inherited hemoglobinopathy › thalassemia › alpha thalassemia spectrum

Related subtypes (1): beta thalassemia

Subtypes (2): digenic alpha thalassemia spectrum, monogenic alpha thalassemia spectrum

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

445 retrieved; paginated sample, class counts are floors:

173 likely pathogenic, 84 uncertain significance, 83 pathogenic, 53 pathogenic/likely pathogenic, 20 conflicting classifications of pathogenicity, 12 likely benign, 10 benign, 6 benign/likely benign, 3 not provided, 1 uncertain significance; other

ClinVar	Variant (HGVS)	Gene	Classification	Review
375745	NM_000517.4:c.[339C>G;340_351delCTCCCCGCCGAG]		Pathogenic	no assertion criteria provided
375750	NM_000517.4:c.[-2_-3delAC;-alpha3.7]		Pathogenic	no assertion criteria provided
4820116	NC_000016.9:g.208984_(235732_238422)del		Pathogenic	criteria provided, single submitter
487442	NC_000016.10:g.(?151209)(182142_?)del	HBA-LCR	Pathogenic	no assertion criteria provided
869337	NC_000016.10:g.151479_182582del	HBA-LCR	Pathogenic	no assertion criteria provided
1048833	NM_000558.5(HBA1):c.95+2_95+6del	HBA1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1331033	NM_000558.5(HBA1):c.328del (p.Leu110fs)	HBA1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
15624	NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)	HBA1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
15849	NM_000558.3(HBA1):c.179G>A (p.Gly60Asp)	HBA1	Pathogenic	criteria provided, multiple submitters, no conflicts
15879	NM_000558.5(HBA1):c.283_300+3dup	HBA1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2428550	NM_000558.5(HBA1):c.62_63insT (p.Ala22fs)	HBA1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2428673	NM_000558.5(HBA1):c.1A>G (p.Met1Val)	HBA1	Pathogenic	criteria provided, multiple submitters, no conflicts
2580349	GRCh37/hg19 16p13.3(chr16:215947-231157)x1	HBA1	Pathogenic	criteria provided, single submitter
2681961	NM_000558.5(HBA1):c.95+1G>A	HBA1	Pathogenic	criteria provided, multiple submitters, no conflicts
2920892	NM_000558.5(HBA1):c.96-2A>G	HBA1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3075902	NM_000558.5(HBA1):c.44G>A (p.Trp15Ter)	HBA1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3220863	Single allele	HBA1	Pathogenic	criteria provided, single submitter
3579876	NM_000558.5(HBA1):c.2T>C (p.Met1Thr)	HBA1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3579878	NM_000558.5(HBA1):c.95+2T>C	HBA1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
375753	NC_000016.10:g.172005_177200del	HBA1	Pathogenic	no assertion criteria provided
38635	NM_005332.2(HBZ):c.330_*22601del	HBA1	Pathogenic	no assertion criteria provided
38636	NG_000006.1(HBA1):g.34247_38050del	HBA1	Pathogenic	no assertion criteria provided
3893661	NC_000016.10:g.173384_177187dup	HBA1	Pathogenic	no assertion criteria provided
3903433	NC_000016.10:g.175997_178388del	HBA1	Pathogenic	no assertion criteria provided
439103	NM_000558.5(HBA1):c.43T>C (p.Trp15Arg)	HBA1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
4533035	NM_000558.5(HBA1):c.349G>T (p.Glu117Ter)	HBA1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
4814422	NM_000558.5(HBA1):c.95+1G>C	HBA1	Pathogenic	criteria provided, single submitter
487448	NC_000016.10:g.(?169780)(182142_?)del	HBA1	Pathogenic	no assertion criteria provided
618153	NM_000558.5(HBA1):c.187del (p.Val63fs)	HBA1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
619842	NM_000558.5(HBA1):c.237del (p.Asn79fs)	HBA1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 24 · Orphanet: 45 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
HBA1	Definitive	Semidominant	alpha thalassemia spectrum	13
HBA2	Strong	Autosomal recessive	alpha thalassemia spectrum	11

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
HBA1	Orphanet:163596	Hemoglobin Bart’s fetalis syndrome
HBA1	Orphanet:247511	Autosomal dominant secondary polycythemia
HBA1	Orphanet:330041	Hemoglobin M disease
HBA1	Orphanet:707789	Unstable alpha globin chain variant disease
HBA1	Orphanet:715143	Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene
HBA1	Orphanet:93616	Hemoglobin H disease
HBA1	Orphanet:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
HBA2	Orphanet:163596	Hemoglobin Bart’s fetalis syndrome
HBA2	Orphanet:247511	Autosomal dominant secondary polycythemia
HBA2	Orphanet:330041	Hemoglobin M disease
HBA2	Orphanet:707789	Unstable alpha globin chain variant disease
HBA2	Orphanet:715143	Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene
HBA2	Orphanet:715154	Low oxygen affinity alpha chain hemoglobin disease
HBA2	Orphanet:93616	Hemoglobin H disease
HBA2	Orphanet:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
NPRL3	Orphanet:98820	Familial focal epilepsy with variable foci
HBB	Orphanet:2132	Hemoglobin C disease
HBB	Orphanet:2133	Hemoglobin E disease
HBB	Orphanet:231214	Beta-thalassemia major
HBB	Orphanet:231222	Beta-thalassemia intermedia
HBB	Orphanet:231226	Unstable beta globin chain variant disease
HBB	Orphanet:231237	Delta-beta-thalassemia
HBB	Orphanet:231242	Hemoglobin C-beta-thalassemia syndrome
HBB	Orphanet:231249	Hemoglobin E-beta-thalassemia syndrome
HBB	Orphanet:232	Sickle cell anemia
HBB	Orphanet:247511	Autosomal dominant secondary polycythemia
HBB	Orphanet:251365	Sickle cell S-C disease
HBB	Orphanet:251370	Sickle cell S-D Punjab disease
HBB	Orphanet:251375	Sickle cell S-E disease
HBB	Orphanet:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HBB	Orphanet:330041	Hemoglobin M disease
HBB	Orphanet:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
HBB	Orphanet:695140	Sickle cell-beta zero-thalassemia
HBB	Orphanet:695147	Sickle cell-beta plus-thalassemia
HBB	Orphanet:699822	Sickle cell S-Lepore disease
HBB	Orphanet:700090	Sickle cell S-O Arab disease
HBB	Orphanet:700107	Sickle cell S-other specified hemoglobin variant
HBB	Orphanet:700111	Homozygous hemoglobin O Arab disease
HBB	Orphanet:715125	Hemoglobin E-beta-thalassemia intermedia
HBB	Orphanet:715128	Hemoglobin E-beta-thalassemia major
HBB	Orphanet:715135	Hemoglobin Lepore-beta-thalassemia intermedia
HBB	Orphanet:715140	Hemoglobin Lepore-beta-thalassemia major
HBB	Orphanet:715143	Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene
HBB	Orphanet:715157	Low oxygen affinity beta chain hemoglobin disease
HBB	Orphanet:90039	Hemoglobin D disease

Cohort genes → proteins

5 cohort genes, 4 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	5

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
HBA1	HGNC:4823	ENSG00000206172	P69905	Hemoglobin subunit alpha	gencc,clinvar
HBA2	HGNC:4824	ENSG00000188536	P69905	Hemoglobin subunit alpha	gencc,clinvar
NPRL3	HGNC:14124	ENSG00000103148	Q12980	GATOR1 complex protein NPRL3	clinvar
HBM	HGNC:4826	ENSG00000206177	Q6B0K9	Hemoglobin subunit mu	clinvar
HBB	HGNC:4827	ENSG00000244734	P68871	Hemoglobin subunit beta	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
HBA1	Hemoglobin subunit alpha	Involved in oxygen transport from the lung to the various peripheral tissues.
HBA2	Hemoglobin subunit alpha	Involved in oxygen transport from the lung to the various peripheral tissues.
NPRL3	GATOR1 complex protein NPRL3	As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the mTORC1 pathway.
HBB	Hemoglobin subunit beta	Involved in oxygen transport from the lung to the various peripheral tissues.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 5 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	5	1.8×	0.054

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
HBA1	Other/Unknown	no		Globin, Hemoglobin_a-typ, Hemoglobin_pi
HBA2	Other/Unknown	no		Globin, Hemoglobin_a-typ, Hemoglobin_pi
NPRL3	Other/Unknown	no		Npr3, HTH_NPRL3
HBM	Other/Unknown	no		Globin, Hemoglobin_a-typ, Globin-like_sf
HBB	Other/Unknown	no		Globin, Hemoglobin_b, Globin-like_sf

Expression context

Cohort genes with no expression data: 0.

5 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	5
unknown	0

Top tissues across cohort

Tissue	Cohort genes
blood	4
monocyte	3
bone marrow	2
trabecular bone tissue	2
bone element	1
hindlimb stylopod muscle	1
right uterine tube	1
vena cava	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
HBA1	133	tissue_specific	marker	monocyte, blood, bone marrow
HBA2	143	tissue_specific	marker	monocyte, blood, bone element
NPRL3	276	ubiquitous	marker	blood, hindlimb stylopod muscle, right uterine tube
HBM	139	tissue_specific	marker	trabecular bone tissue, bone marrow, blood
HBB	284	broad	marker	monocyte, trabecular bone tissue, vena cava

Protein interactions among cohort

Intra-cohort edges: 4.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
NPRL3	1,511
HBM	553
HBB	454
HBA1	434
HBA2	434

Intra-cohort edges

A	B	Sources
HBA1	HBA2	biogrid_interaction, intact
HBA1	HBB	intact
HBA2	HBB	intact
HBB	HBM	biogrid_interaction, intact

Structural data

PDB: 5 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
HBA1	P69905	356
HBA2	P69905	356
HBB	P68871	350
NPRL3	Q12980	10
HBM	Q6B0K9	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 11. Enrichment computed across 5 evidence-associated genes (4 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Heme assimilation	3	2855.0×	2e-10	HBA1, HBA2, HBB
Erythrocytes take up oxygen and release carbon dioxide	3	951.7×	7e-09	HBA1, HBA2, HBB
Erythrocytes take up carbon dioxide and release oxygen	3	658.9×	1e-08	HBA1, HBA2, HBB
Scavenging of heme from plasma	3	658.9×	1e-08	HBA1, HBA2, HBB
Heme signaling	3	161.6×	8e-07	HBA1, HBA2, HBB
Cytoprotection by HMOX1	3	138.2×	1e-06	HBA1, HBA2, HBB
Chaperone Mediated Autophagy	1	124.1×	0.013	HBB
Late endosomal microautophagy	1	81.6×	0.017	HBB
Amino acids regulate mTORC1	1	50.1×	0.024	NPRL3
Factors involved in megakaryocyte development and platelet production	1	16.6×	0.065	HBB
Neutrophil degranulation	1	5.8×	0.162	HBB

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
oxygen transport	4	842.6×	5e-11	HBA1, HBA2, HBM, HBB
erythrocyte development	4	421.3×	5e-10	HBA1, HBA2, HBM, HBB
nitric oxide transport	3	2022.2×	8e-10	HBA1, HBA2, HBB
cellular oxidant detoxification	3	1123.5×	5e-09	HBA1, HBA2, HBB
carbon dioxide transport	3	777.8×	1e-08	HBA1, HBA2, HBB
hydrogen peroxide catabolic process	3	404.4×	1e-07	HBA1, HBA2, HBB
response to hydrogen peroxide	3	280.9×	3e-07	HBA1, HBA2, HBB
inflammatory response	3	22.6×	4e-04	HBA1, HBA2, HBB
renal absorption	1	337.0×	0.007	HBB
aorta morphogenesis	1	177.4×	0.010	NPRL3
cardiac muscle tissue development	1	177.4×	0.010	NPRL3
blood vessel diameter maintenance	1	124.8×	0.013	HBB
ventricular septum development	1	99.1×	0.015	NPRL3
positive regulation of nitric oxide biosynthetic process	1	91.1×	0.016	HBB
platelet aggregation	1	67.4×	0.018	HBB
negative regulation of TORC1 signaling	1	64.8×	0.018	NPRL3
cellular response to amino acid starvation	1	63.6×	0.018	NPRL3
roof of mouth development	1	49.6×	0.022	NPRL3
regulation of blood pressure	1	44.4×	0.024	HBB
positive regulation of autophagy	1	41.6×	0.024	NPRL3

Therapeutics

Drugs indicated for this disease

0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Mitapivat	Phase 3 (in late-stage trials)

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 4

Druggability breadth: 3 of 5 evidence-associated genes (60%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
HBB	CANDESARTAN CILEXETIL

Top cohort targets by molecule count

Symbol	Molecules	Max phase
HBB	23	4
HBA1	0	0
HBA2	0	0
NPRL3	0	0
HBM	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
CANDESARTAN CILEXETIL	4	HBB
MECHLORETHAMINE HYDROCHLORIDE	4	HBB
PHENAZOPYRIDINE HYDROCHLORIDE	4	HBB
MERCAPTOPURINE ANHYDROUS	4	HBB
AZACITIDINE	4	HBB
AZATHIOPRINE	4	HBB
TOPOTECAN HYDROCHLORIDE	4	HBB
ACYCLOVIR	4	HBB
FLUOROURACIL	4	HBB
RAUWOLFIA SERPENTINA	4	HBB
HYDROQUINONE	4	HBB
MENADIONE	4	HBB
THIOTEPA	4	HBB
THIOGUANINE	4	HBB
RESERPINE	4	HBB
CURCUMIN	3	HBB
HYDROXYCAMPTOTHECIN	3	HBB
MOLIBRESIB	2	HBB
FISETIN	2	HBB
TEROXIRONE	2	HBB
5-FLUOROURIDINE	2	HBB
ELLAGIC ACID	2	HBB
BAICALEIN	2	HBB

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
HBB	68	Binding:50, Functional:18
HBA1	59	Binding:46, Functional:13
HBA2	59	Binding:46, Functional:13

Pharmacogenomics

Cohort genes with a PharmGKB record: 5; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

23 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
CANDESARTAN CILEXETIL	4	HBB
MECHLORETHAMINE HYDROCHLORIDE	4	HBB
PHENAZOPYRIDINE HYDROCHLORIDE	4	HBB
MERCAPTOPURINE ANHYDROUS	4	HBB
AZACITIDINE	4	HBB
AZATHIOPRINE	4	HBB
TOPOTECAN HYDROCHLORIDE	4	HBB
ACYCLOVIR	4	HBB
FLUOROURACIL	4	HBB
RAUWOLFIA SERPENTINA	4	HBB
HYDROQUINONE	4	HBB
MENADIONE	4	HBB
THIOTEPA	4	HBB
THIOGUANINE	4	HBB
RESERPINE	4	HBB
CURCUMIN	3	HBB
HYDROXYCAMPTOTHECIN	3	HBB
MOLIBRESIB	2	HBB
FISETIN	2	HBB
TEROXIRONE	2	HBB
5-FLUOROURIDINE	2	HBB
ELLAGIC ACID	2	HBB
BAICALEIN	2	HBB

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	HBB
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	4	HBA1, HBA2, NPRL3, HBM

Undrugged target profiles

4 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
HBA1	59	HBB
HBA2	59	HBB
NPRL3	0	—
HBM	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 9.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	7
PHASE1/PHASE2	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01419704	PHASE1/PHASE2	WITHDRAWN	Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies
NCT02986698	PHASE1	TERMINATED	In Utero Hematopoietic Stem Cell Transplantation for Alpha-thalassemia Major (ATM)
NCT02692872	Not specified	ACTIVE_NOT_RECRUITING	Screening for Alpha Thalassemia in Healthy Volunteers
NCT04872179	Not specified	RECRUITING	International Registry of Patients With Alpha Thalassemia
NCT06539169	Not specified	RECRUITING	FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
NCT06591936	Not specified	RECRUITING	Genetic Profile of Alpha Thalassemia Children at Sohag University Hospital .
NCT00159029	Not specified	COMPLETED	Genetics of Alpha Thalassemia in Israeli Ethnic Groups
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT06831799	Not specified	COMPLETED	ERN-EuroBloodNet Registry on Patients With Rare Red Blood Cell Defects and COVID-19