Hemoglobin C Disease

Hemoglobin C Disease

Article
Diseases & Conditions
Congenital & Genetic Disorders
+1
Contributed byKrish Tangella MD, MBAMay 09, 2018

What are the other Names for this Condition? (Also known as/Synonyms)

  • Clinical Hemoglobin C
  • Haemoglobin C-C Disease
  • Homozygous for Hb C

What is Hemoglobin C Disease? (Definition/Background Information)

  • Hemoglobin C Disease, or Hb C Disease, is an inherited blood disorder that is marked by the presence of an abnormal hemoglobin type, known as hemoglobin C
  • Hemoglobins are iron-rich, oxygen transporting proteins, found in the red blood cells. Those with Hb C may suffer from mild hemolytic anemia. Hemolysis means a breakdown of red blood cells. This leads to a depletion of red blood cells in the blood, causing anemia
  • The disorder is an autosomal recessive condition; implying that the defective genes are transferred to the child by both the parents
  • Management of the condition involves treating anemia (if required); otherwise no specific treatment is required

Who gets Hemoglobin C Disease? (Age and Sex Distribution)

  • Hemoglobin C Disease affects the newborn child. It is present at birth, but sometimes not discovered until a much later period, usually adulthood
  • No male-female gender inequality is observed
  • The disease is endemic to some ethnic groups and found in certain geographical regions of the world, like African-Americans (in the US), Hispanics, few regions of North Africa, and individuals of Italian, Greek, and Caribbean ancestry

What are the Risk Factors for Hemoglobin C Disease? (Predisposing Factors)

The risk factors for Hemoglobin C Disease include:

  • Hb C Disease runs in the families and hence, children born in families with a medical history of the condition are at risk
  • Individuals having consanguineous partners/spouses have the greatest risk

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Hemoglobin C Disease? (Etiology)

  • Genetic mutations are said to cause Hemoglobin C Disease. The reason behind the mutations and the exact mechanism of how hemoglobins are affected, is under study research
  • Both parents have to be affected with, or be carriers of the defective genes, for their offspring to be affected with Hb C Disease. This feature is known as autosomal recessive

What are the Signs and Symptoms of Hemoglobin C Disease?

Hemoglobin C Disease is a generally mild condition and most individuals are asymptomatic. Nevertheless, the following signs and symptoms may be noted, in some individuals:

  • Mild hemolytic anemia; usually aggravated during infection/illness
  • Yellowing of the eyes, jaundice (rare)
  • Streaks in the eye, due to retinal damage
  • A few individuals may develop gallstones, which may have to be treated
  • Enlarged spleen (splenomegaly)
  • Pain in the bones and muscles (sometimes)
  • Dental tissue impairment
  • Reduced red blood cells could render the body vulnerable for opportunistic infections

How is Hemoglobin C Disease Diagnosed?

Diagnosis of Hemoglobin C Disease is made by:

  • Physical exam with evaluation of family medical history of the newborn/child
  • Blood test; total blood count
  • Hemoglobin analysis
  • Genetic mutation testing
  • Oral, eye examination
  • Abdominal ultrasound
  • Differential diagnosis to eliminate other conditions, since there are several causes for anemia

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Hemoglobin C Disease?

A few complications caused by Hemoglobin C Disease include:

  • Gallbladder disease; formation of gallstones
  • Spleen enlargement
  • Severe anemia due to parvovirus infection
  • Acute damage of the retina

How is Hemoglobin C Disease Treated?

Mild symptoms are generally the norm with Hemoglobin C Disease; severe conditions resulting in severe complications are infrequent. The management measures include:

  • Most individuals do not require any treatment for the disease; they lead a normal life
  • To treat anemia; folic acid, or other suitable supplementations are used
  • Cholecystectomy (removal of gallbladder) is performed, if necessary
  • Laser treatment for eye problems
  • Dental support and treatment, if required
  • Partial or complete removal of spleen (splenectomy); this procedure is performed only in rare cases

How can Hemoglobin C Disease be Prevented?

  • Currently there are no specific methods or guidelines to prevent Hemoglobin C Disease genetic condition
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Hemoglobin C Disease? (Outcomes/Resolutions)

  • Hemoglobin C Disease is one of the mildest forms of hemoglobin-related disorders. Most individuals lead a normal life, with full life expectancy
  • Symptomatic treatment (with surgical intervention) is required for those with acute conditions of anemia, gallstones, eye, dental health, and spleen problems. Despite these problems, the prognosis is generally good
  • Hb C Disease may lower the red blood cell count and make the body susceptible to opportunistic infections, which could further lead to more severe hemolytic anemia

Additional and Relevant Useful Information for Hemoglobin C Disease:

  • Hemoglobin C Disease occurs sometimes, together with Hemoglobin SC Disease (Sickle Cell Hemoglobin Disease). The combined effect of these two disorders may increase the intensity of the symptoms
Was this article helpful

On the Article

Krish Tangella MD, MBA picture
Approved by

Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

0 Comments

Please log in to post a comment.

Related Articles

Test Your Knowledge

Asked by users

Related Centers

Loading

Related Specialties

Loading card

Related Physicians

Related Procedures

Related Resources

Join DoveHubs

and connect with fellow professionals

Related Directories

Who we are

At DoveMed, our utmost priority is your well-being. We are an online medical resource dedicated to providing you with accurate and up-to-date information on a wide range of medical topics. But we're more than just an information hub - we genuinely care about your health journey. That's why we offer a variety of products tailored for both healthcare consumers and professionals, because we believe in empowering everyone involved in the care process.
Our mission is to create a user-friendly healthcare technology portal that helps you make better decisions about your overall health and well-being. We understand that navigating the complexities of healthcare can be overwhelming, so we strive to be a reliable and compassionate companion on your path to wellness.
As an impartial and trusted online resource, we connect healthcare seekers, physicians, and hospitals in a marketplace that promotes a higher quality, easy-to-use healthcare experience. You can trust that our content is unbiased and impartial, as it is trusted by physicians, researchers, and university professors around the globe. Importantly, we are not influenced or owned by any pharmaceutical, medical, or media companies. At DoveMed, we are a group of passionate individuals who deeply care about improving health and wellness for people everywhere. Your well-being is at the heart of everything we do.

© 2023 DoveMed. All rights reserved. It is not the intention of DoveMed to provide specific medical advice. DoveMed urges its users to consult a qualified healthcare professional for diagnosis and answers to their personal medical questions. Always call 911 (or your local emergency number) if you have a medical emergency!