Hb H Disease: Clinical Course And Disease Modifiers - PubMed

Clipboard, Search History, and several other advanced features are temporarily unavailable. Skip to main page content

The .gov means it’s official. Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

The site is secure. The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation Search: Search Advanced Clipboard Save Email Send to

• Clipboard
• My Bibliography
• Collections
• Citation manager

Display options Display options Format Abstract PubMed PMID

Save citation to file

Format: Summary (text) PubMed PMID Abstract (text) CSV Create file Cancel

Email citation

Email address has not been verified. Go to My NCBI account settings to confirm your email and then refresh this page. To: Subject: Body: Format: Summary Summary (text) Abstract Abstract (text) MeSH and other data Send email Cancel

Add to Collections

• Create a new collection
• Add to an existing collection

Name your collection: Name must be less than 100 characters Choose a collection: Unable to load your collection due to an error Please try again Add Cancel

Add to My Bibliography

• My Bibliography

Unable to load your delegates due to an error Please try again Add Cancel

Your saved search

Name of saved search: Search terms: Test search terms Would you like email updates of new search results? Saved Search Alert Radio Buttons

• Yes
• No

Email: (change) Frequency: Monthly Weekly Daily Which day? The first Sunday The first Monday The first Tuesday The first Wednesday The first Thursday The first Friday The first Saturday The first day The first weekday Which day? Sunday Monday Tuesday Wednesday Thursday Friday Saturday Report format: Summary Summary (text) Abstract Abstract (text) PubMed Send at most: 1 item 5 items 10 items 20 items 50 items 100 items 200 items Send even when there aren't any new results Optional text in email: Save Cancel

Create a file for external citation management software

Create file Cancel

Your RSS Feed

Name of RSS Feed: Number of items displayed: 5 10 15 20 50 100 Create RSS Cancel RSS Link Copy

Full text links

Silverchair Information Systems Full text links

Actions

CiteCollectionsAdd to Collections

• Create a new collection
• Add to an existing collection

Name your collection: Name must be less than 100 characters Choose a collection: Unable to load your collection due to an errorPlease try again Add Cancel PermalinkPermalinkCopyDisplay options Display options Format AbstractPubMedPMID

Page navigation

• Title & authors
• Abstract
• Publication types
• MeSH terms
• Substances
• LinkOut - more resources

Title & authors Abstract Publication types MeSH terms Substances LinkOut - more resources Full text links CiteDisplay options Display options Format AbstractPubMedPMID

Abstract

Hemoglobin H (Hb H) disease is the most common form of thalassemia intermedia and has many features that require careful consideration in management. In the majority of cases, Hb H disease results from double heterozygosity for alpha(0)-thalassemia due to deletions that remove both linked alpha-globin genes on chromosome 16, and deletional alpha(+)-thalassemia from single alpha-globin gene deletions (--/-alpha). However, Hb H disease may occur from interactions between alpha(0)-thalassemia with non-deletional mutations (alpha(T)alpha or alpha(T)) or with abnormal hemoglobins such as Hb Constant Spring, Hb Paksé, Hb Quong Sze, and Hb Pak Num Po. In a steady state, patients with Hb H diseases have hemoglobin levels around 9 to 10 g/dL; however, during hemolytic crisis, which frequently develops in or after acute infections with high fever, the hemoglobin level may drop significantly and patients can develop shock or renal shutdown. Even though splenectomy leads to significant elevation of hemoglobin levels, it is not recommended because the majority of patients do well with said steady-state hemoglobin levels. Patients with non-deletional Hb H disease are usually more anemic with significant splenomegaly, and some may require regular blood transfusions and be even as severe as "Hb H hydrops fetalis." However, there is no clear genotype-phenotype correlation associated with this severe clinical syndrome since patients with identical genotypes do not necessary show the same severity. This suggests that other genetic and environmental factors play a role in modifying the degree of clinical severity in patients with non-deletional Hb H disease.

PubMed Disclaimer

Publication types

• Review Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search

MeSH terms

• Folic Acid / therapeutic use Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Genetic Heterogeneity Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Hemoglobins, Abnormal / genetics Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Humans Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Infant, Newborn Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Phenotype Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Sequence Deletion Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Splenectomy Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• alpha-Globins / genetics Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• alpha-Thalassemia* / diagnosis Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• alpha-Thalassemia* / epidemiology Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• alpha-Thalassemia* / genetics Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• alpha-Thalassemia* / physiopathology Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• alpha-Thalassemia* / therapy Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search

Substances

• Hemoglobins, Abnormal Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• alpha-Globins Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• hemoglobin Bart's Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Hemoglobin Constant Spring Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Folic Acid Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search

LinkOut - more resources

• Full Text Sources

  • Silverchair Information Systems

Full text links [x] Silverchair Information Systems [x] Cite Copy Download .nbib .nbib Format: AMA APA MLA NLM Send To

• Clipboard
• Email
• Save
• My Bibliography
• Collections
• Citation Manager

[x]

NCBI Literature Resources

MeSH PMC Bookshelf Disclaimer

The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Unauthorized use of these marks is strictly prohibited.