Diagnostic Services for Hemoglobinopathies

Proven and certified diagnostic services delivering reliable results for Rare Disease diagnosis using advanced analytical techniques including enzyme, biomarker, and genetic testing.

Discover our Diagnostics

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.

Available biochemical tests:

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

Quality:

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

Methodologies:

HPLC and biochemical assay by Clinical Mass Spectrometry.
Genetics by Next-Generation Sequencing platform.

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.

How to Order Hemoglobinopathy and Thalassemia Diagnostic Services

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

All of our services are available to any interested physician or healthcare professional worldwide.

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