Diagnostic Services for
Hemoglobinopathies

A proven and certified diagnostic service delivering reliable results for the diagnosis of Hemoglobinopathies and Thalassemias using advanced analytical techniques including biochemical and genetic testing.

Premium diagnostic services for
Hemoglobinopathies and Thalassemias.
From biochemical to genetic confirmation.

Path to Hb + Th Diagnosis

Our service is an excellent option for the identification of Hemoglobinopathies and Thalassemias (Hb + Th) in at-risk patients showing specific clinical symptoms or for an individual or family member who has a family history of Hemoglobinopathies.

Testing is fast and safe using Dried Blood Spot (DBS) cards. This simple and minimally invasive technique supplies enough samples for biochemical testing and in most cases genetic confirmation testing as well.

Quality:

Fully validated and accredited according to the highest quality standards for Medical Laboratories (ISO 15189).

 

Methodologies used:

  • HPLC.
  • Biochemical assays by Clinical Mass Spectrometry.
  • Genetics by Next-Generation Sequencing platforms.

Panel Diagnostics

Biochemical and Genetic testing from a single Dried Blood Spot

Path to Hemoglobinopathies diagnosis

Available biochemical
tests:

Hemoglobin:
Variants and levels

Available genetic tests:

Gene Associated disease(s) OMIM # Inheritance
HBA1, HBA2 Erythrocytosis, 7 141800, 141850
Heinz body anemias, alpha- AD
Hemoglobin H disease, nondeletional
Methemoglobinemia, alpha type
Thalassemias, alpha-
HBB Delta-beta thalassemia 141900 AD
Erythrocytosis 6
Heinz body anemia AD
Hereditary persistence of fetal hemoglobin AD
Methmoglobinemia, beta type
Sickle cell anemia AR
Thalassemia, beta
Thalassemia-beta, dominant inclusion-body
Malaria, resistance to

About Hemoglobinopathies

What are Hemoglobinopathies?

Hemoglobinopathies are a group of genetic disorders that affect red blood cells. These disorders are caused by a genetic mutation affecting the function of hemolgobin. There are two primary groups:

  • Thalassemia syndromes – Mutations affecting the synthesis of hemoglobin resulting in reduced globin chain production. The main types of thalassemia are α-thalassemia and
    β-thalassemia.
  • Structural hemoglobin variants – Mutations affecting the structure of hemoglobin causing abnormal hemoglobin shape and function. Main structural hemoglobin variants (e.g. HbS, HbC, HbD, HbE) in homozygous and co-inherited form can lead to clinically relevant symptoms.

What are the affects of Hemoglobinopathies?

There are hundreds hemoglobinopathy variants with widely varying clinical symptoms from no clear illness to mild anemia progressing to severe hematological disease.

Important Note:
Individuals with a family history of hemoglobinopathies should consider genetic testing.

Clinical Symptoms:

Common symptoms include chronic anemia, developmental disorders, pain crises, and susceptibility to infections.

More questions about Hemoglobinopathies
and supporting diagnostics?

How to Order Hemoglobinopathy and Thalassemia Diagnostic Services

ARCHIMEDlife Sampling Kit

Our Diagnostic Services for Hemoglobinopathies and Thalassemia include biochemical testing for several hemoglobinopathy variants as well as any necessary genetic molecular analysis.

These services are available to any interested physician or healthcare professional worldwide.

As part of our diagnostic service, we supply complimentary ARCHIMEDlife sampling kits. You can order your sampling kits and diagnostic services though our easy and secure WEBPORTAL and receive your electronic medical report in five simple steps.

Five Simple Steps


1Order Sampling Kit

2Collect the Sample

3Register the DBS card

4Return the Sample

5Receive your Report

More questions about Hemoglobinopathies
and supporting diagnostics?

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