{
  "url": "https://dantelabs.com/tr/genes/spta1",
  "gene": {
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    "name": "spectrin alpha, erythrocytic 1",
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    "location": "1q23.1",
    "locusType": "gene with protein product",
    "aliases": [
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    "uniprot": [
      "P02549"
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          "symbol": "CD1D",
          "ensemblId": "ENSG00000158473",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "cd1d"
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          "symbol": "OR6K6",
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          "biotype": "protein_coding",
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          "symbol": "OR6N2",
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          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "or6n2"
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        {
          "symbol": "MNDA",
          "ensemblId": "ENSG00000163563",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "mnda"
        },
        {
          "symbol": "PYHIN1",
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          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "pyhin1"
        },
        {
          "symbol": "IFI16",
          "ensemblId": "ENSG00000163565",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "ifi16"
        },
        {
          "symbol": "PYDC5",
          "ensemblId": "ENSG00000289721",
          "biotype": "protein_coding",
          "start": 158999971,
          "end": 159002751,
          "strand": "-",
          "slug": "pydc5"
        },
        {
          "symbol": "AIM2",
          "ensemblId": "ENSG00000163568",
          "biotype": "protein_coding",
          "start": 159056129,
          "end": 159188222,
          "strand": "-",
          "slug": "aim2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-spherocytosis",
        "name": "Herediter Sferositoz",
        "diseases": [
          {
            "mondoId": "MONDO:0019350",
            "name": "Herediter Sferositoz",
            "genes": 6,
            "inheritance": null,
            "description": "Herediter sferositoz, anemi, değişken sarılık, splenomegali ve kolelitiazis ile karakterize, geniş bir klinik spektruma sahip (semptomsuz taşıyıcılardan ağır hemolize kadar) konjenital hemolitik bir anemidir.",
            "management": "Folik asit takviyesi; orta-ağır hastalıkta splenektomi (kısmi veya tam); splenektomi öncesi aşılama; safra taşları için kolesistektomi; aplastik krizler sırasında transfüzyon desteği; parvovirüs B19 açısından izlem",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/hereditary-spherocytosis"
      },
      {
        "slug": "red-blood-cell-membrane-disorders",
        "name": "Kırmızı Kan Hücre Zarı Bozuklukları",
        "diseases": [
          {
            "mondoId": "MONDO:0009948",
            "name": "Kalıtsal Piropoikilositoz",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "SPTA1 veya SPTB genlerinin her iki kopyasındaki değişikliklerden kaynaklanan, genellikle çekinik kalıtılan ciddi bir kırmızı hücre zar bozukluğudur. Kırmızı hücreler kırılgan ve anormal şekillidir; bu durum bebeklik döneminden itibaren hemolitik anemiye yol açar.",
            "management": "Tanı, kan transfüzyonu desteğine ve dalak alınmasına ilişkin kararlara yol gösterir.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0017319",
            "name": "Kalıtsal Eliptositoz",
            "genes": 4,
            "inheritance": "autosomal-dominant",
            "description": "Esas olarak SPTA1, SPTB veya EPB41 tarafından kodlanan, kırmızı hücre iskelet proteinlerindeki kalıtsal değişikliklerdir; kırmızı hücreleri oval veya uzamış hale getirir. Çoğu kişide belirti görülmez, ancak bazılarında hemolitik anemi gelişir.",
            "management": "Bu durumun bilinmesi, olağandışı kan yayması bulgularını açıklar ve varsa anemi yönetimine rehberlik eder.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/red-blood-cell-membrane-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "abnormal-erythrocyte-morphology",
        "name": "Abnormal erythrocyte morphology",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-erythrocyte-morphology"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "chills",
        "name": "Chills",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chills"
      },
      {
        "slug": "congenital-hemolytic-anemia",
        "name": "Congenital hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congenital-hemolytic-anemia"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "elliptocytosis",
        "name": "Elliptocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elliptocytosis"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "extramedullary-hematopoiesis",
        "name": "Extramedullary hematopoiesis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/extramedullary-hematopoiesis"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "cholelithiasis",
        "name": "Gallstones",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cholelithiasis"
      },
      {
        "slug": "gout",
        "name": "Gout",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/gout"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hemolytic-anemia",
        "name": "Hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemolytic-anemia"
      },
      {
        "slug": "hyperbilirubinemia",
        "name": "High blood bilirubin levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperbilirubinemia"
      },
      {
        "slug": "hydrops-fetalis",
        "name": "Hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hydrops-fetalis"
      },
      {
        "slug": "hypercoagulability",
        "name": "Hypercoagulability",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypercoagulability"
      },
      {
        "slug": "hypofibrinogenemia",
        "name": "Hypofibrinogenemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypofibrinogenemia"
      },
      {
        "slug": "reticulocytosis",
        "name": "Increased immature red blood cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reticulocytosis"
      },
      {
        "slug": "increased-mean-corpuscular-hemoglobin-concentration",
        "name": "Increased mean corpuscular hemoglobin concentration",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-mean-corpuscular-hemoglobin-concentration"
      },
      {
        "slug": "increased-red-cell-osmotic-fragility",
        "name": "Increased red cell osmotic fragility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-red-cell-osmotic-fragility"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "maculopapular-exanthema",
        "name": "Maculopapular exanthema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/maculopapular-exanthema"
      },
      {
        "slug": "microspherocytosis",
        "name": "Microspherocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/microspherocytosis"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "neonatal-hyperbilirubinemia",
        "name": "Neonatal hyperbilirubinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neonatal-hyperbilirubinemia"
      },
      {
        "slug": "skin-ulcer",
        "name": "Open skin sore",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skin-ulcer"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "poikilocytosis",
        "name": "Poikilocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/poikilocytosis"
      },
      {
        "slug": "prolonged-neonatal-jaundice",
        "name": "Prolonged yellowing of skin in newborn",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice"
      },
      {
        "slug": "pyropoikilocytosis",
        "name": "Pyropoikilocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/pyropoikilocytosis"
      },
      {
        "slug": "restrictive-cardiomyopathy",
        "name": "Restrictive cardiomyopathy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/restrictive-cardiomyopathy"
      },
      {
        "slug": "spherocytosis",
        "name": "Spherocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spherocytosis"
      },
      {
        "slug": "spontaneous-hemolytic-crises",
        "name": "Spontaneous hemolytic crises",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spontaneous-hemolytic-crises"
      },
      {
        "slug": "stomatocytosis",
        "name": "Stomatocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stomatocytosis"
      }
    ],
    "related": [
      {
        "slug": "slc4a1",
        "symbol": "SLC4A1",
        "name": "solute carrier family 4 member 1 (Diego blood group)",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/slc4a1"
      },
      {
        "slug": "sptb",
        "symbol": "SPTB",
        "name": "spectrin beta, erythrocytic",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/sptb"
      },
      {
        "slug": "ank1",
        "symbol": "ANK1",
        "name": "ankyrin 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ank1"
      },
      {
        "slug": "epb41",
        "symbol": "EPB41",
        "name": "erythrocyte membrane protein band 4.1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/epb41"
      },
      {
        "slug": "epb42",
        "symbol": "EPB42",
        "name": "erythrocyte membrane protein band 4.2",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/epb42"
      },
      {
        "slug": "slc4a2",
        "symbol": "SLC4A2",
        "name": "solute carrier family 4 member 2",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/slc4a2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}