Welcome to IthaMaps
IthaMaps is a global epidemiology database of heamoglobinopathies, illustrating published data on a dynamic global to regional map. Country-specific information on haemoglobinopathy-related policies, prevalence, incidence and overall disease burden is given, including relative allele frequencies of specific globin mutations in each country and/or region, dynamically linked to corresponding IthaGenes entries.
IthaMaps content was supported by partnership with the HVP Global Globin 2020 Challenge
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General information for United States
 United States |
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Haemoglobinopathy-specific healthcare policy information for United States
| Healthcare policy | Comment/Info | Reference | |
|---|---|---|---|
| Prevention programme: | No | Premarital/preconception screening offered upon request. | [PMID: 24921462] |
| SCD newborn screening: | Yes (National) | Universal SCD newborn screening since 2006. | [PMID: 25503918] |
| Prenatal screening: | No | Offered on a targeted, ad hoc basis in the US Guidelines published by the American College of Obstetrics and Gynecology . | [PMID: 23590658] |
| Antenatal screening: | No | Offered upon request. | [PMID: 24921462] |
| Haemoglobinopathies patient registry: | No | Sickle Cell Disease Implementation Consortium since 2016 [NHLBI], Voluntary thalassemia patient registry maintained by the Cooley's Anemia Foundation. Registry for alpha thalassemia (UCSF clinical trials). RuSH during 2004-2008 [CDC]; Comprehensive Sickle Cell Centers Collaborative Data during 2005-2008 [NHLBI] | [PMID: 32886826] |
| Rare disease patient registry: | No | There is a Rare Diseases Registry (RaDaR) Program, but it lacks a formal national RD policy. | [PMID: 28359278] |
| Dedicated treatment centres: | Yes (Regional) | E.g., Thalassemia Western Consortium Treatment Centres | |
| Blood transfusion availability: | Yes (National) | http://bca.coop/ | |
| Iron chelation availability: | Yes (National) | FDA-approved deferoxamine, deferasirox and deferiprone. | |
| MRI facilities: | Yes (Regional) | From: PGPR, Global Sickle Cell Disease Network. |
Prevalence and incidence of major haemoglobinopathies in United States
| Haemoglobinopathy | Comment/Info | Reference | |
|---|---|---|---|
| Prevalence of β-thalassaemia carriers: | 0.4 % of the population | [PMID: 24672827] | |
| Prevalence of sickle cell disease carriers: | 1.27 % of the population | [PMID: 22307997] | |
| Prevalence of Hb E carriers: | 0.088 % of the population | [PMID: 22307997] | |
| Prevalence of Hb C carriers: | 0.353 % of the population | [PMID: 22307997] | |
| Expected incidence of β-thalassaemia: | 24 expected affected births/year | [PMID: 24672827] | |
| Expected incidence of sickle cell disease: | 115 expected affected births/year | [PMID: 24672827] | |
| Incidence of sickle cell disease: | 2843 affected births/year | Median value estimated using statistical model and demographic data. | [PMID: 23103089] |
| Known β-thalassaemia patients: | 716 patients | [PMID: 24672827] | |
| Known sickle cell disease patients: | 70 patients | Extends between 70-100000. | [PMID: 24672827] |
Global Burden of Disease data for United States
Migration data for United States
Mutation frequencies in United States
Overview (most frequent mutations with their observed average values and range)
β-locus
| CD 26 GAG>AAG [Glu>Lys] (HbE): 21.4 % | -29 (A>G): 18.1 % |
| -88 (C>T): 6.17 % | IVS I-110 G>A: 5.3 % |
Detailed mutation frequencies
| Entry ID | Locus | Region | Ethnic Group | Population Type | Sample Size | Study period (from) | Study period (to) | Reference | Comments | |
|---|---|---|---|---|---|---|---|---|---|---|
| 23020 | β-locus | California | Multi-ethnic | Patients | 243 | 2001 | 2011 | 23590658 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from California's newborn screening program. |
Organisations in United States
Organisations in United States are currently not available
Microattributions
No microattibutions were provided for United States. Please contact us, if you are willing to review existing information or provide new data.
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Important Note: The relative allele frequencies presented in IthaMaps are not calculated by ITHANET, but they are extracted from the corresponding publications. ITHANET is not responsible for any mistakes in the data. Please use this information with caution! We encourage scientists that have more detailed or updated epidemiological information to contact us.
Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaMaps are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.