Hemoglobinopathies (overview)

  • Method:
  • Anticoagulant:
  • Recommendation:
  • Method:
    Blood Count
  • Anticoagulant:
  • Recommendation:
  • Method:
    Hemoglobin Differentiation
  • Anticoagulant:
  • Recommendation:
  • Method:
    Iron Status
  • Anticoagulant:
  • Recommendation:
    Dep. on Blood Count
  • Method:
    Molecular genetics
  • Anticoagulant:
  • Recommendation:

*3 ml EDTA blood (blood count tube), **7.5 ml serum, ***7.5 ml EDTA blood (extra tube).

Based on current guidelines and the most recent research, different diagnostic recommendations arise for patients with a hemoglobinopathy, such as thalassemia or sickle cell disease. We have summarized the most important information on the classification and diagnostic methods at MLL. In addition, we have compiled further links on the various diseases so that you can obtain more in-depth information.

Hemoglobinopathies: Overview

Hemoglobinopathies are hereditary hemoglobin diseases caused by different gene variants resulting in impaired synthesis of globin chains.

There are quantitative (thalassemias) and qualitative (hemoglobin structure variants) hemoglobinopathies.

Hemoglobinopathies: Symptoms

The leading symptom of thalassemias and thalassemic structural hemoglobin variants is microcytic hypochromic anemia.

Sickle cell disease (sickle cell anemia) is characterized by symptoms due to vaso-occlusive events. Clinically, there is often also a chronic hemolytic anemia that accompanies these patients throughout their lives.

Otherwise, symptoms of structural hemoglobin variants are not uniform and depend on the underlying structural hemoglobin variant.

The following are indications for the workup of a hemoglobinopathy:

  • Hypochromia and/ or anemia with prior exclusion of iron deficiency
  • Chronic hemolytic anemia
  • Vascular occlusions of unexplained etiology
  • Recurrent pain crises
  • Unexplained severe infections
  • Hydrops fetalis syndrome
  • Positive family history

Hemoglobinopathies: Diagnostic methods

The diagnosis of hemoglobinopathies is based on an interplay of various biochemical and molecular genetic methods and is usually performed as a step-by-step work-up. The first step is the full blood count and hemoglobin separation. Especially in hypochromia, the iron status should always be determined to exclude an underlying iron deficiency. In a second step, molecular genetic tests are used to characterize abnormal findings and to verify the molecular genetic cause of the clinical picture and the changes in the blood count and hemoglobin separation.

Furthermore, the molecular genetic findings can be used to estimate the risk for offspring to develop a severe homozygous form of hemoglobinopathy.

Hemoglobinopathies: Background

Physiologically, hemoglobin is composed of two identical globin chains, to each of which a heme molecule is bound.

The predominant types of hemoglobin in adults are:

Hemoglobin type

Globin chains

Proportion of total hemoglobin



96,7 - 97,8 %



2,2 - 3,2 %



< 0,5 %

The α-globin gene complex on chromosome 16 contains, among others, the two α-globin genes HBA1 and HBA2, which encode the α-globin chains. The β-globin gene complex is located on chromosome 11 and includes, among others, the β- (HBB), two γ- (HBG1 and HBG2), and the δ-globin gene (HBD). These genes encode the corresponding β-, γ-, or δ-globin chains that, with two α-globin chains, form the different types of hemoglobin. Physiologically, each of these genes exists twice - once on the maternal and once on the paternal chromosome. 

Status: April 2024

You may also be interested in


As a rapidly growing, innovative medical laboratory, we are always looking for bright minds to help us bring new and more effective therapies to patients around the world.

Learn more


Do you have questions about sample submission, analyses performed or findings? Here you will find contact details, contact persons and our most frequently asked questions (FAQs).

Learn more

Quality management

We have been certified according to national and international standards since 2009 and have successfully maintained these accreditations.

Learn more