Anemia, and Splenomegaly

Diseases related with Anemia and Splenomegaly

In the following list you will find some of the most common rare diseases related to Anemia and Splenomegaly that can help you solving undiagnosed cases.


Top matches:

Medium match HEMOGLOBIN C-BETA-THALASSEMIA SYNDROME


Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia.

HEMOGLOBIN C-BETA-THALASSEMIA SYNDROME Is also known as hbc-beta-thalassemia syndrome|c-beta-thalassemia

Related symptoms:

  • Anemia
  • Splenomegaly
  • Microcytic anemia
  • Abnormal hemoglobin


SOURCES: ORPHANET MENDELIAN

More info about HEMOGLOBIN C-BETA-THALASSEMIA SYNDROME

Low match HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME


Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.

HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME Is also known as hpfh-beta-thalassemia syndrome

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Pallor
  • Persistence of hemoglobin F


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME

Low match HEMOLYTIC ANEMIA DUE TO DIPHOSPHOGLYCERATE MUTASE DEFICIENCY


A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.

HEMOLYTIC ANEMIA DUE TO DIPHOSPHOGLYCERATE MUTASE DEFICIENCY Is also known as diphosphoglycerate mutase deficiency of erythrocyte|dpgm deficiency|bisphosphoglyceromutase deficiency|bpgm deficiency

Related symptoms:

  • Anemia
  • Splenomegaly
  • Abnormality of metabolism/homeostasis
  • Jaundice
  • Hemolytic anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC ANEMIA DUE TO DIPHOSPHOGLYCERATE MUTASE DEFICIENCY

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Other less relevant matches:

Low match SPHEROCYTOSIS, TYPE 4; SPH4


SPHEROCYTOSIS, TYPE 4; SPH4 Is also known as hs4|spherocytosis, hereditary, 4

Related symptoms:

  • Anemia
  • Splenomegaly
  • Jaundice
  • Hemolytic anemia
  • Hyperbilirubinemia


SOURCES: MESH OMIM MENDELIAN

More info about SPHEROCYTOSIS, TYPE 4; SPH4

Low match SPHEROCYTOSIS, TYPE 2; SPH2


Hereditary spherocytosis refers to a group of heterogeneous disorders that are characterized by the presence of spherical-shaped erythrocytes (spherocytes) on the peripheral blood smear. The disorders are characterized clinically by anemia, jaundice, and splenomegaly, with variable severity. Common complications include cholelithiasis, hemolytic episodes, and aplastic crises (review by Perrotta et al., 2008).For a general description and a discussion of genetic heterogeneity of hereditary spherocytosis, see {182900}.

SPHEROCYTOSIS, TYPE 2; SPH2 Is also known as hs2|spherocytosis, hereditary, 2

Related symptoms:

  • Anemia
  • Splenomegaly
  • Jaundice
  • Hemolytic anemia
  • Hyperbilirubinemia


SOURCES: OMIM MENDELIAN

More info about SPHEROCYTOSIS, TYPE 2; SPH2

Low match THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS; THAMY


Related symptoms:

  • Anemia
  • Splenomegaly
  • Thrombocytopenia
  • Myeloproliferative disorder
  • Giant platelets


SOURCES: OMIM MENDELIAN

More info about THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS; THAMY

Low match DOMINANT BETA-THALASSEMIA


Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia.

DOMINANT BETA-THALASSEMIA Is also known as dyserythropoietic anemia, congenital, irish or weatherall type|inclusion body beta-thalassemia

Related symptoms:

  • Anemia
  • Splenomegaly
  • Jaundice
  • Pallor
  • Postural instability


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DOMINANT BETA-THALASSEMIA

Low match DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2


In dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, red blood cells exhibit altered intracellular cation content and cellular dehydration, resulting in increased erythrocyte mean corpuscular hemoglobin concentration (MCHC) and decreased erythrocyte osmotic fragility. Blood films show various cell shape abnormalities, the most characteristic being the stomatocyte, with a straight or crescent-shaped central pallor (summary by Rapetti-Mauss et al., 2015).For discussion of clinical and genetic heterogeneity of the stomatocytoses, see DHS1 (OMIM ).

DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2 Is also known as desiccytosis gardos|xerocytosis gardos

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Jaundice
  • Hepatosplenomegaly


SOURCES: OMIM MENDELIAN

More info about DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2

Low match NON-SPHEROCYTIC HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY


Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in HK1, the gene that encodes red blood cell-specific hexokinase-R.

Related symptoms:

  • Anemia
  • Fatigue
  • Splenomegaly
  • Abnormality of metabolism/homeostasis
  • Jaundice


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NON-SPHEROCYTIC HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY

Low match COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY


Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.

COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY Is also known as combined immunodeficiency with expansion of gamma delta t cells|cid due to partial rag1 deficiency|cid with expansion of gamma delta t cells

Related symptoms:

  • Anemia
  • Splenomegaly
  • Immunodeficiency
  • Autoimmunity
  • Sepsis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Anemia and Splenomegaly

Symptoms // Phenotype % cases
Jaundice Common - Between 50% and 80% cases
Hemolytic anemia Uncommon - Between 30% and 50% cases
Cholelithiasis Uncommon - Between 30% and 50% cases
Reticulocytosis Uncommon - Between 30% and 50% cases
Hyperbilirubinemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Splenomegaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Normocytic anemia Pallor

Rare Symptoms - Less than 30% cases


Chronic hemolytic anemia Prolonged neonatal jaundice Acanthocytosis Spherocytosis Normochromic anemia Anisopoikilocytosis Nonspherocytic hemolytic anemia Hepatomegaly Microcytic anemia Cholecystitis Abnormal hemoglobin Abnormality of metabolism/homeostasis Increased red cell osmotic fragility Polycythemia Interstitial pneumonitis B lymphocytopenia Decrease in T cell count Severe combined immunodeficiency Autoimmune hemolytic anemia Sepsis Autoimmunity Immunodeficiency Pancytopenia Lethargy Fatigue Increased mean corpuscular hemoglobin concentration Congenital hemolytic anemia Stomatocytosis Persistence of hemoglobin F Increased mean corpuscular volume Macrocytic anemia Dehydration Hepatosplenomegaly Erythroid hyperplasia Congenital hypoplastic anemia Anemia of inadequate production Postural instability Abnormal bone structure Myelofibrosis Giant platelets Myeloproliferative disorder Thrombocytopenia Autoimmune neutropenia



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